SNP Links for Protein (Select 1061899875) - SNP

Links from Protein

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Select item 14880994851.

rs1488099485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:21432756 (GRCh38)
X:21450874 (GRCh37)
Canonical SPDI:: NC_000023.11:21432755:C:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21432756C>G, NC_000023.10:g.21450874C>G, NG_016266.1:g.63339C>G, NM_014927.5:c.373C>G, NM_014927.4:c.373C>G, NM_014927.3:c.373C>G, NM_001168648.3:c.373C>G, NM_001168648.2:c.373C>G, NM_001168648.1:c.373C>G, NM_001168649.3:c.373C>G, NM_001168649.2:c.373C>G, NM_001168649.1:c.373C>G, NM_001168647.3:c.373C>G, NM_001168647.2:c.373C>G, NM_001168647.1:c.373C>G, NM_001330773.2:c.373C>G, NM_001330773.1:c.373C>G, NM_001330771.2:c.373C>G, NM_001330771.1:c.373C>G, NM_001330770.2:c.373C>G, NM_001330770.1:c.373C>G, NM_001330772.2:c.373C>G, NM_001330772.1:c.373C>G, XM_011545471.4:c.373C>G, XM_011545471.3:c.373C>G, XM_011545471.2:c.373C>G, XM_011545471.1:c.373C>G, XM_011545472.4:c.373C>G, XM_011545472.3:c.373C>G, XM_011545472.2:c.373C>G, XM_011545472.1:c.373C>G, XM_017029358.3:c.373C>G, XM_017029358.2:c.373C>G, XM_017029358.1:c.373C>G, NP_055742.2:p.Leu125Val, NP_001162119.1:p.Leu125Val, NP_001162120.1:p.Leu125Val, NP_001162118.1:p.Leu125Val, NP_001317702.1:p.Leu125Val, NP_001317700.1:p.Leu125Val, NP_001317699.1:p.Leu125Val, NP_001317701.1:p.Leu125Val, XP_011543773.1:p.Leu125Val, XP_011543774.1:p.Leu125Val, XP_016884847.1:p.Leu125Val

Select item 14864477052.

rs1486447705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:21374942 (GRCh38)
X:21393060 (GRCh37)
Canonical SPDI:: NC_000023.11:21374941:A:C
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21374942A>C, NC_000023.10:g.21393060A>C, NG_016266.1:g.5525A>C, NM_014927.5:c.45A>C, NM_014927.4:c.45A>C, NM_014927.3:c.45A>C, NM_001168648.3:c.45A>C, NM_001168648.2:c.45A>C, NM_001168648.1:c.45A>C, NM_001168649.3:c.45A>C, NM_001168649.2:c.45A>C, NM_001168649.1:c.45A>C, NM_001168647.3:c.45A>C, NM_001168647.2:c.45A>C, NM_001168647.1:c.45A>C, NM_001330773.2:c.45A>C, NM_001330773.1:c.45A>C, NM_001330771.2:c.45A>C, NM_001330771.1:c.45A>C, NM_001330770.2:c.45A>C, NM_001330770.1:c.45A>C, NM_001330772.2:c.45A>C, NM_001330772.1:c.45A>C, XM_011545471.4:c.45A>C, XM_011545471.3:c.45A>C, XM_011545471.2:c.45A>C, XM_011545471.1:c.45A>C, XM_011545472.4:c.45A>C, XM_011545472.3:c.45A>C, XM_011545472.2:c.45A>C, XM_011545472.1:c.45A>C, XM_017029358.3:c.45A>C, XM_017029358.2:c.45A>C, XM_017029358.1:c.45A>C, NP_055742.2:p.Gln15His, NP_001162119.1:p.Gln15His, NP_001162120.1:p.Gln15His, NP_001162118.1:p.Gln15His, NP_001317702.1:p.Gln15His, NP_001317700.1:p.Gln15His, NP_001317699.1:p.Gln15His, NP_001317701.1:p.Gln15His, XP_011543773.1:p.Gln15His, XP_011543774.1:p.Gln15His, XP_016884847.1:p.Gln15His

Select item 14863936733.

rs1486393673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:21497807 (GRCh38)
X:21515925 (GRCh37)
Canonical SPDI:: NC_000023.11:21497806:A:G,NC_000023.11:21497806:A:T
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.21497807A>G, NC_000023.11:g.21497807A>T, NC_000023.10:g.21515925A>G, NC_000023.10:g.21515925A>T, NG_016266.1:g.128390A>G, NG_016266.1:g.128390A>T, NM_014927.5:c.702A>G, NM_014927.5:c.702A>T, NM_014927.4:c.702A>G, NM_014927.4:c.702A>T, NM_014927.3:c.702A>G, NM_014927.3:c.702A>T, NM_001168648.3:c.702A>G, NM_001168648.3:c.702A>T, NM_001168648.2:c.702A>G, NM_001168648.2:c.702A>T, NM_001168648.1:c.702A>G, NM_001168648.1:c.702A>T, NM_001168649.3:c.702A>G, NM_001168649.3:c.702A>T, NM_001168649.2:c.702A>G, NM_001168649.2:c.702A>T, NM_001168649.1:c.702A>G, NM_001168649.1:c.702A>T, NM_001168647.3:c.702A>G, NM_001168647.3:c.702A>T, NM_001168647.2:c.702A>G, NM_001168647.2:c.702A>T, NM_001168647.1:c.702A>G, NM_001168647.1:c.702A>T, NM_001330773.2:c.702A>G, NM_001330773.2:c.702A>T, NM_001330773.1:c.702A>G, NM_001330773.1:c.702A>T, NM_001330771.2:c.702A>G, NM_001330771.2:c.702A>T, NM_001330771.1:c.702A>G, NM_001330771.1:c.702A>T, NM_001330770.2:c.702A>G, NM_001330770.2:c.702A>T, NM_001330770.1:c.702A>G, NM_001330770.1:c.702A>T, NM_001330772.2:c.702A>G, NM_001330772.2:c.702A>T, NM_001330772.1:c.702A>G, NM_001330772.1:c.702A>T, XM_011545471.4:c.702A>G, XM_011545471.4:c.702A>T, XM_011545471.3:c.702A>G, XM_011545471.3:c.702A>T, XM_011545471.2:c.702A>G, XM_011545471.2:c.702A>T, XM_011545471.1:c.702A>G, XM_011545471.1:c.702A>T, XM_011545472.4:c.702A>G, XM_011545472.4:c.702A>T, XM_011545472.3:c.702A>G, XM_011545472.3:c.702A>T, XM_011545472.2:c.702A>G, XM_011545472.2:c.702A>T, XM_011545472.1:c.702A>G, XM_011545472.1:c.702A>T, XM_017029358.3:c.702A>G, XM_017029358.3:c.702A>T, XM_017029358.2:c.702A>G, XM_017029358.2:c.702A>T, XM_017029358.1:c.702A>G, XM_017029358.1:c.702A>T

Select item 14835525884.

rs1483552588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21532007 (GRCh38)
X:21550125 (GRCh37)
Canonical SPDI:: NC_000023.11:21532006:T:C
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21532007T>C, NC_000023.10:g.21550125T>C, NG_016266.1:g.162590T>C, NM_014927.5:c.1243T>C, NM_014927.4:c.1243T>C, NM_014927.3:c.1243T>C, NM_001168648.3:c.1243T>C, NM_001168648.2:c.1243T>C, NM_001168648.1:c.1243T>C, NM_001168649.3:c.1096T>C, NM_001168649.2:c.1096T>C, NM_001168649.1:c.1096T>C, NM_001168647.3:c.1243T>C, NM_001168647.2:c.1243T>C, NM_001168647.1:c.1243T>C, NM_001330773.2:c.1243T>C, NM_001330773.1:c.1243T>C, NM_001330771.2:c.1096T>C, NM_001330771.1:c.1096T>C, NM_001330770.2:c.1096T>C, NM_001330770.1:c.1096T>C, NM_001330772.2:c.1096T>C, NM_001330772.1:c.1096T>C, XM_011545471.4:c.1243T>C, XM_011545471.3:c.1243T>C, XM_011545471.2:c.1243T>C, XM_011545471.1:c.1243T>C, XM_011545472.4:c.1096T>C, XM_011545472.3:c.1096T>C, XM_011545472.2:c.1096T>C, XM_011545472.1:c.1096T>C, XM_017029358.3:c.1096T>C, XM_017029358.2:c.1096T>C, XM_017029358.1:c.1096T>C, NP_055742.2:p.Tyr415His, NP_001162119.1:p.Tyr415His, NP_001162120.1:p.Tyr366His, NP_001162118.1:p.Tyr415His, NP_001317702.1:p.Tyr415His, NP_001317700.1:p.Tyr366His, NP_001317699.1:p.Tyr366His, NP_001317701.1:p.Tyr366His, XP_011543773.1:p.Tyr415His, XP_011543774.1:p.Tyr366His, XP_016884847.1:p.Tyr366His

Select item 14740265795.

rs1474026579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:21563332 (GRCh38)
X:21581450 (GRCh37)
Canonical SPDI:: NC_000023.11:21563331:A:T
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21563332A>T, NC_000023.10:g.21581450A>T, NG_016266.1:g.193915A>T, NM_014927.5:c.1488A>T, NM_014927.4:c.1488A>T, NM_014927.3:c.1488A>T, NM_001168648.3:c.1488A>T, NM_001168648.2:c.1488A>T, NM_001168648.1:c.1488A>T, NM_001168649.3:c.1341A>T, NM_001168649.2:c.1341A>T, NM_001168649.1:c.1341A>T, NM_001168647.3:c.1398A>T, NM_001168647.2:c.1398A>T, NM_001168647.1:c.1398A>T, NM_001330773.2:c.1398A>T, NM_001330773.1:c.1398A>T, NM_001330771.2:c.1251A>T, NM_001330771.1:c.1251A>T, NM_001330770.2:c.1341A>T, NM_001330770.1:c.1341A>T, NM_001330772.2:c.1251A>T, NM_001330772.1:c.1251A>T, XM_011545471.4:c.1398A>T, XM_011545471.3:c.1398A>T, XM_011545471.2:c.1398A>T, XM_011545471.1:c.1398A>T, XM_011545472.4:c.1341A>T, XM_011545472.3:c.1341A>T, XM_011545472.2:c.1341A>T, XM_011545472.1:c.1341A>T, XM_017029358.3:c.1251A>T, XM_017029358.2:c.1251A>T, XM_017029358.1:c.1251A>T

Select item 14709973996.

rs1470997399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:21490479 (GRCh38)
X:21508597 (GRCh37)
Canonical SPDI:: NC_000023.11:21490478:C:A
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.21490479C>A, NC_000023.10:g.21508597C>A, NG_016266.1:g.121062C>A, NM_014927.5:c.582C>A, NM_014927.4:c.582C>A, NM_014927.3:c.582C>A, NM_001168648.3:c.582C>A, NM_001168648.2:c.582C>A, NM_001168648.1:c.582C>A, NM_001168649.3:c.582C>A, NM_001168649.2:c.582C>A, NM_001168649.1:c.582C>A, NM_001168647.3:c.582C>A, NM_001168647.2:c.582C>A, NM_001168647.1:c.582C>A, NM_001330773.2:c.582C>A, NM_001330773.1:c.582C>A, NM_001330771.2:c.582C>A, NM_001330771.1:c.582C>A, NM_001330770.2:c.582C>A, NM_001330770.1:c.582C>A, NM_001330772.2:c.582C>A, NM_001330772.1:c.582C>A, XM_011545471.4:c.582C>A, XM_011545471.3:c.582C>A, XM_011545471.2:c.582C>A, XM_011545471.1:c.582C>A, XM_011545472.4:c.582C>A, XM_011545472.3:c.582C>A, XM_011545472.2:c.582C>A, XM_011545472.1:c.582C>A, XM_017029358.3:c.582C>A, XM_017029358.2:c.582C>A, XM_017029358.1:c.582C>A

Select item 14694514827.

rs1469451482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:21648951 (GRCh38)
X:21667069 (GRCh37)
Canonical SPDI:: NC_000023.11:21648950:C:T
Gene:: CNKSR2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21648951C>T, NC_000023.10:g.21667069C>T, NG_016266.1:g.279534C>T, NM_014927.5:c.2813C>T, NM_014927.4:c.2813C>T, NM_014927.3:c.2813C>T, NM_001168647.3:c.2723C>T, NM_001168647.2:c.2723C>T, NM_001168647.1:c.2723C>T, NM_001330770.2:c.2666C>T, NM_001330770.1:c.2666C>T, NM_001330772.2:c.2576C>T, NM_001330772.1:c.2576C>T, NP_055742.2:p.Ser938Leu, NP_001162118.1:p.Ser908Leu, NP_001317699.1:p.Ser889Leu, NP_001317701.1:p.Ser859Leu

Select item 14692996728.

rs1469299672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:21432701 (GRCh38)
X:21450819 (GRCh37)
Canonical SPDI:: NC_000023.11:21432700:G:A
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21432701G>A, NC_000023.10:g.21450819G>A, NG_016266.1:g.63284G>A, NM_014927.5:c.318G>A, NM_014927.4:c.318G>A, NM_014927.3:c.318G>A, NM_001168648.3:c.318G>A, NM_001168648.2:c.318G>A, NM_001168648.1:c.318G>A, NM_001168649.3:c.318G>A, NM_001168649.2:c.318G>A, NM_001168649.1:c.318G>A, NM_001168647.3:c.318G>A, NM_001168647.2:c.318G>A, NM_001168647.1:c.318G>A, NM_001330773.2:c.318G>A, NM_001330773.1:c.318G>A, NM_001330771.2:c.318G>A, NM_001330771.1:c.318G>A, NM_001330770.2:c.318G>A, NM_001330770.1:c.318G>A, NM_001330772.2:c.318G>A, NM_001330772.1:c.318G>A, XM_011545471.4:c.318G>A, XM_011545471.3:c.318G>A, XM_011545471.2:c.318G>A, XM_011545471.1:c.318G>A, XM_011545472.4:c.318G>A, XM_011545472.3:c.318G>A, XM_011545472.2:c.318G>A, XM_011545472.1:c.318G>A, XM_017029358.3:c.318G>A, XM_017029358.2:c.318G>A, XM_017029358.1:c.318G>A

Select item 14691394539.

rs1469139453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21601345 (GRCh38)
X:21619463 (GRCh37)
Canonical SPDI:: NC_000023.11:21601344:A:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21601345A>G, NC_000023.10:g.21619463A>G, NG_016266.1:g.231928A>G, NM_014927.5:c.2040A>G, NM_014927.4:c.2040A>G, NM_014927.3:c.2040A>G, NM_001168648.3:c.2040A>G, NM_001168648.2:c.2040A>G, NM_001168648.1:c.2040A>G, NM_001168649.3:c.1893A>G, NM_001168649.2:c.1893A>G, NM_001168649.1:c.1893A>G, NM_001168647.3:c.1950A>G, NM_001168647.2:c.1950A>G, NM_001168647.1:c.1950A>G, NM_001330773.2:c.1950A>G, NM_001330773.1:c.1950A>G, NM_001330771.2:c.1803A>G, NM_001330771.1:c.1803A>G, NM_001330770.2:c.1893A>G, NM_001330770.1:c.1893A>G, NM_001330772.2:c.1803A>G, NM_001330772.1:c.1803A>G, XM_011545471.4:c.1950A>G, XM_011545471.3:c.1950A>G, XM_011545471.2:c.1950A>G, XM_011545471.1:c.1950A>G, XM_011545472.4:c.1893A>G, XM_011545472.3:c.1893A>G, XM_011545472.2:c.1893A>G, XM_011545472.1:c.1893A>G, XM_017029358.3:c.1803A>G, XM_017029358.2:c.1803A>G, XM_017029358.1:c.1803A>G

Select item 146904214210.

rs1469042142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:21497843 (GRCh38)
X:21515961 (GRCh37)
Canonical SPDI:: NC_000023.11:21497842:A:T
Gene:: CNKSR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21497843A>T, NC_000023.10:g.21515961A>T, NG_016266.1:g.128426A>T, NM_014927.5:c.738A>T, NM_014927.4:c.738A>T, NM_014927.3:c.738A>T, NM_001168648.3:c.738A>T, NM_001168648.2:c.738A>T, NM_001168648.1:c.738A>T, NM_001168649.3:c.738A>T, NM_001168649.2:c.738A>T, NM_001168649.1:c.738A>T, NM_001168647.3:c.738A>T, NM_001168647.2:c.738A>T, NM_001168647.1:c.738A>T, NM_001330773.2:c.738A>T, NM_001330773.1:c.738A>T, NM_001330771.2:c.738A>T, NM_001330771.1:c.738A>T, NM_001330770.2:c.738A>T, NM_001330770.1:c.738A>T, NM_001330772.2:c.738A>T, NM_001330772.1:c.738A>T, XM_011545471.4:c.738A>T, XM_011545471.3:c.738A>T, XM_011545471.2:c.738A>T, XM_011545471.1:c.738A>T, XM_011545472.4:c.738A>T, XM_011545472.3:c.738A>T, XM_011545472.2:c.738A>T, XM_011545472.1:c.738A>T, XM_017029358.3:c.738A>T, XM_017029358.2:c.738A>T, XM_017029358.1:c.738A>T, NP_055742.2:p.Glu246Asp, NP_001162119.1:p.Glu246Asp, NP_001162120.1:p.Glu246Asp, NP_001162118.1:p.Glu246Asp, NP_001317702.1:p.Glu246Asp, NP_001317700.1:p.Glu246Asp, NP_001317699.1:p.Glu246Asp, NP_001317701.1:p.Glu246Asp, XP_011543773.1:p.Glu246Asp, XP_011543774.1:p.Glu246Asp, XP_016884847.1:p.Glu246Asp

Select item 146602870311.

rs1466028703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:21648850 (GRCh38)
X:21666968 (GRCh37)
Canonical SPDI:: NC_000023.11:21648849:G:A
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.21648850G>A, NC_000023.10:g.21666968G>A, NG_016266.1:g.279433G>A, NM_014927.5:c.2712G>A, NM_014927.4:c.2712G>A, NM_014927.3:c.2712G>A, NM_001168647.3:c.2622G>A, NM_001168647.2:c.2622G>A, NM_001168647.1:c.2622G>A, NM_001330770.2:c.2565G>A, NM_001330770.1:c.2565G>A, NM_001330772.2:c.2475G>A, NM_001330772.1:c.2475G>A

Select item 146545865612.

rs1465458656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21426574 (GRCh38)
X:21444692 (GRCh37)
Canonical SPDI:: NC_000023.11:21426573:A:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.21426574A>G, NC_000023.10:g.21444692A>G, NG_016266.1:g.57157A>G, NM_014927.5:c.142A>G, NM_014927.4:c.142A>G, NM_014927.3:c.142A>G, NM_001168648.3:c.142A>G, NM_001168648.2:c.142A>G, NM_001168648.1:c.142A>G, NM_001168649.3:c.142A>G, NM_001168649.2:c.142A>G, NM_001168649.1:c.142A>G, NM_001168647.3:c.142A>G, NM_001168647.2:c.142A>G, NM_001168647.1:c.142A>G, NM_001330773.2:c.142A>G, NM_001330773.1:c.142A>G, NM_001330771.2:c.142A>G, NM_001330771.1:c.142A>G, NM_001330770.2:c.142A>G, NM_001330770.1:c.142A>G, NM_001330772.2:c.142A>G, NM_001330772.1:c.142A>G, XM_011545471.4:c.142A>G, XM_011545471.3:c.142A>G, XM_011545471.2:c.142A>G, XM_011545471.1:c.142A>G, XM_011545472.4:c.142A>G, XM_011545472.3:c.142A>G, XM_011545472.2:c.142A>G, XM_011545472.1:c.142A>G, XM_017029358.3:c.142A>G, XM_017029358.2:c.142A>G, XM_017029358.1:c.142A>G, NP_055742.2:p.Thr48Ala, NP_001162119.1:p.Thr48Ala, NP_001162120.1:p.Thr48Ala, NP_001162118.1:p.Thr48Ala, NP_001317702.1:p.Thr48Ala, NP_001317700.1:p.Thr48Ala, NP_001317699.1:p.Thr48Ala, NP_001317701.1:p.Thr48Ala, XP_011543773.1:p.Thr48Ala, XP_011543774.1:p.Thr48Ala, XP_016884847.1:p.Thr48Ala

Select item 146194116013.

rs1461941160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21532066 (GRCh38)
X:21550184 (GRCh37)
Canonical SPDI:: NC_000023.11:21532065:T:C
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.21532066T>C, NC_000023.10:g.21550184T>C, NG_016266.1:g.162649T>C, NM_014927.5:c.1302T>C, NM_014927.4:c.1302T>C, NM_014927.3:c.1302T>C, NM_001168648.3:c.1302T>C, NM_001168648.2:c.1302T>C, NM_001168648.1:c.1302T>C, NM_001168649.3:c.1155T>C, NM_001168649.2:c.1155T>C, NM_001168649.1:c.1155T>C, NM_001168647.3:c.1302T>C, NM_001168647.2:c.1302T>C, NM_001168647.1:c.1302T>C, NM_001330773.2:c.1302T>C, NM_001330773.1:c.1302T>C, NM_001330771.2:c.1155T>C, NM_001330771.1:c.1155T>C, NM_001330770.2:c.1155T>C, NM_001330770.1:c.1155T>C, NM_001330772.2:c.1155T>C, NM_001330772.1:c.1155T>C, XM_011545471.4:c.1302T>C, XM_011545471.3:c.1302T>C, XM_011545471.2:c.1302T>C, XM_011545471.1:c.1302T>C, XM_011545472.4:c.1155T>C, XM_011545472.3:c.1155T>C, XM_011545472.2:c.1155T>C, XM_011545472.1:c.1155T>C, XM_017029358.3:c.1155T>C, XM_017029358.2:c.1155T>C, XM_017029358.1:c.1155T>C

Select item 145985581614.

rs1459855816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21563269 (GRCh38)
X:21581387 (GRCh37)
Canonical SPDI:: NC_000023.11:21563268:A:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.21563269A>G, NC_000023.10:g.21581387A>G, NG_016266.1:g.193852A>G, NM_014927.5:c.1425A>G, NM_014927.4:c.1425A>G, NM_014927.3:c.1425A>G, NM_001168648.3:c.1425A>G, NM_001168648.2:c.1425A>G, NM_001168648.1:c.1425A>G, NM_001168649.3:c.1278A>G, NM_001168649.2:c.1278A>G, NM_001168649.1:c.1278A>G, NM_001168647.3:c.1335A>G, NM_001168647.2:c.1335A>G, NM_001168647.1:c.1335A>G, NM_001330773.2:c.1335A>G, NM_001330773.1:c.1335A>G, NM_001330771.2:c.1188A>G, NM_001330771.1:c.1188A>G, NM_001330770.2:c.1278A>G, NM_001330770.1:c.1278A>G, NM_001330772.2:c.1188A>G, NM_001330772.1:c.1188A>G, XM_011545471.4:c.1335A>G, XM_011545471.3:c.1335A>G, XM_011545471.2:c.1335A>G, XM_011545471.1:c.1335A>G, XM_011545472.4:c.1278A>G, XM_011545472.3:c.1278A>G, XM_011545472.2:c.1278A>G, XM_011545472.1:c.1278A>G, XM_017029358.3:c.1188A>G, XM_017029358.2:c.1188A>G, XM_017029358.1:c.1188A>G

Select item 145663507515.

rs1456635075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:21609324 (GRCh38)
X:21627442 (GRCh37)
Canonical SPDI:: NC_000023.11:21609323:T:C
Gene:: CNKSR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21609324T>C, NC_000023.10:g.21627442T>C, NG_016266.1:g.239907T>C, NM_014927.5:c.2399T>C, NM_014927.4:c.2399T>C, NM_014927.3:c.2399T>C, NM_001168648.3:c.2399T>C, NM_001168648.2:c.2399T>C, NM_001168648.1:c.2399T>C, NM_001168649.3:c.2252T>C, NM_001168649.2:c.2252T>C, NM_001168649.1:c.2252T>C, NM_001168647.3:c.2309T>C, NM_001168647.2:c.2309T>C, NM_001168647.1:c.2309T>C, NM_001330773.2:c.2309T>C, NM_001330773.1:c.2309T>C, NM_001330771.2:c.2162T>C, NM_001330771.1:c.2162T>C, NM_001330770.2:c.2252T>C, NM_001330770.1:c.2252T>C, NM_001330772.2:c.2162T>C, NM_001330772.1:c.2162T>C, XM_011545471.4:c.2309T>C, XM_011545471.3:c.2309T>C, XM_011545471.2:c.2309T>C, XM_011545471.1:c.2309T>C, XM_011545472.4:c.2252T>C, XM_011545472.3:c.2252T>C, XM_011545472.2:c.2252T>C, XM_011545472.1:c.2252T>C, XM_017029358.3:c.2162T>C, XM_017029358.2:c.2162T>C, XM_017029358.1:c.2162T>C, NP_055742.2:p.Ile800Thr, NP_001162119.1:p.Ile800Thr, NP_001162120.1:p.Ile751Thr, NP_001162118.1:p.Ile770Thr, NP_001317702.1:p.Ile770Thr, NP_001317700.1:p.Ile721Thr, NP_001317699.1:p.Ile751Thr, NP_001317701.1:p.Ile721Thr, XP_011543773.1:p.Ile770Thr, XP_011543774.1:p.Ile751Thr, XP_016884847.1:p.Ile721Thr

Select item 145558248816.

rs1455582488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21532000 (GRCh38)
X:21550118 (GRCh37)
Canonical SPDI:: NC_000023.11:21531999:A:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.21532000A>G, NC_000023.10:g.21550118A>G, NG_016266.1:g.162583A>G, NM_014927.5:c.1236A>G, NM_014927.4:c.1236A>G, NM_014927.3:c.1236A>G, NM_001168648.3:c.1236A>G, NM_001168648.2:c.1236A>G, NM_001168648.1:c.1236A>G, NM_001168649.3:c.1089A>G, NM_001168649.2:c.1089A>G, NM_001168649.1:c.1089A>G, NM_001168647.3:c.1236A>G, NM_001168647.2:c.1236A>G, NM_001168647.1:c.1236A>G, NM_001330773.2:c.1236A>G, NM_001330773.1:c.1236A>G, NM_001330771.2:c.1089A>G, NM_001330771.1:c.1089A>G, NM_001330770.2:c.1089A>G, NM_001330770.1:c.1089A>G, NM_001330772.2:c.1089A>G, NM_001330772.1:c.1089A>G, XM_011545471.4:c.1236A>G, XM_011545471.3:c.1236A>G, XM_011545471.2:c.1236A>G, XM_011545471.1:c.1236A>G, XM_011545472.4:c.1089A>G, XM_011545472.3:c.1089A>G, XM_011545472.2:c.1089A>G, XM_011545472.1:c.1089A>G, XM_017029358.3:c.1089A>G, XM_017029358.2:c.1089A>G, XM_017029358.1:c.1089A>G

Select item 145487770717.

rs1454877707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:21648857 (GRCh38)
X:21666975 (GRCh37)
Canonical SPDI:: NC_000023.11:21648856:G:C,NC_000023.11:21648856:G:T
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000012/1 (GnomAD)
T=0.006194/18 (KOREAN)
HGVS:: NC_000023.11:g.21648857G>C, NC_000023.11:g.21648857G>T, NC_000023.10:g.21666975G>C, NC_000023.10:g.21666975G>T, NG_016266.1:g.279440G>C, NG_016266.1:g.279440G>T, NM_014927.5:c.2719G>C, NM_014927.5:c.2719G>T, NM_014927.4:c.2719G>C, NM_014927.4:c.2719G>T, NM_014927.3:c.2719G>C, NM_014927.3:c.2719G>T, NM_001168647.3:c.2629G>C, NM_001168647.3:c.2629G>T, NM_001168647.2:c.2629G>C, NM_001168647.2:c.2629G>T, NM_001168647.1:c.2629G>C, NM_001168647.1:c.2629G>T, NM_001330770.2:c.2572G>C, NM_001330770.2:c.2572G>T, NM_001330770.1:c.2572G>C, NM_001330770.1:c.2572G>T, NM_001330772.2:c.2482G>C, NM_001330772.2:c.2482G>T, NM_001330772.1:c.2482G>C, NM_001330772.1:c.2482G>T, NP_055742.2:p.Asp907His, NP_055742.2:p.Asp907Tyr, NP_001162118.1:p.Asp877His, NP_001162118.1:p.Asp877Tyr, NP_001317699.1:p.Asp858His, NP_001317699.1:p.Asp858Tyr, NP_001317701.1:p.Asp828His, NP_001317701.1:p.Asp828Tyr

Select item 145005275118.

rs1450052751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:21563429 (GRCh38)
X:21581547 (GRCh37)
Canonical SPDI:: NC_000023.11:21563428:G:A,NC_000023.11:21563428:G:C
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.21563429G>A, NC_000023.11:g.21563429G>C, NC_000023.10:g.21581547G>A, NC_000023.10:g.21581547G>C, NG_016266.1:g.194012G>A, NG_016266.1:g.194012G>C, NM_014927.5:c.1585G>A, NM_014927.5:c.1585G>C, NM_014927.4:c.1585G>A, NM_014927.4:c.1585G>C, NM_014927.3:c.1585G>A, NM_014927.3:c.1585G>C, NM_001168648.3:c.1585G>A, NM_001168648.3:c.1585G>C, NM_001168648.2:c.1585G>A, NM_001168648.2:c.1585G>C, NM_001168648.1:c.1585G>A, NM_001168648.1:c.1585G>C, NM_001168649.3:c.1438G>A, NM_001168649.3:c.1438G>C, NM_001168649.2:c.1438G>A, NM_001168649.2:c.1438G>C, NM_001168649.1:c.1438G>A, NM_001168649.1:c.1438G>C, NM_001168647.3:c.1495G>A, NM_001168647.3:c.1495G>C, NM_001168647.2:c.1495G>A, NM_001168647.2:c.1495G>C, NM_001168647.1:c.1495G>A, NM_001168647.1:c.1495G>C, NM_001330773.2:c.1495G>A, NM_001330773.2:c.1495G>C, NM_001330773.1:c.1495G>A, NM_001330773.1:c.1495G>C, NM_001330771.2:c.1348G>A, NM_001330771.2:c.1348G>C, NM_001330771.1:c.1348G>A, NM_001330771.1:c.1348G>C, NM_001330770.2:c.1438G>A, NM_001330770.2:c.1438G>C, NM_001330770.1:c.1438G>A, NM_001330770.1:c.1438G>C, NM_001330772.2:c.1348G>A, NM_001330772.2:c.1348G>C, NM_001330772.1:c.1348G>A, NM_001330772.1:c.1348G>C, XM_011545471.4:c.1495G>A, XM_011545471.4:c.1495G>C, XM_011545471.3:c.1495G>A, XM_011545471.3:c.1495G>C, XM_011545471.2:c.1495G>A, XM_011545471.2:c.1495G>C, XM_011545471.1:c.1495G>A, XM_011545471.1:c.1495G>C, XM_011545472.4:c.1438G>A, XM_011545472.4:c.1438G>C, XM_011545472.3:c.1438G>A, XM_011545472.3:c.1438G>C, XM_011545472.2:c.1438G>A, XM_011545472.2:c.1438G>C, XM_011545472.1:c.1438G>A, XM_011545472.1:c.1438G>C, XM_017029358.3:c.1348G>A, XM_017029358.3:c.1348G>C, XM_017029358.2:c.1348G>A, XM_017029358.2:c.1348G>C, XM_017029358.1:c.1348G>A, XM_017029358.1:c.1348G>C, NP_055742.2:p.Val529Met, NP_055742.2:p.Val529Leu, NP_001162119.1:p.Val529Met, NP_001162119.1:p.Val529Leu, NP_001162120.1:p.Val480Met, NP_001162120.1:p.Val480Leu, NP_001162118.1:p.Val499Met, NP_001162118.1:p.Val499Leu, NP_001317702.1:p.Val499Met, NP_001317702.1:p.Val499Leu, NP_001317700.1:p.Val450Met, NP_001317700.1:p.Val450Leu, NP_001317699.1:p.Val480Met, NP_001317699.1:p.Val480Leu, NP_001317701.1:p.Val450Met, NP_001317701.1:p.Val450Leu, XP_011543773.1:p.Val499Met, XP_011543773.1:p.Val499Leu, XP_011543774.1:p.Val480Met, XP_011543774.1:p.Val480Leu, XP_016884847.1:p.Val450Met, XP_016884847.1:p.Val450Leu

Select item 144731028419.

rs1447310284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21374926 (GRCh38)
X:21393044 (GRCh37)
Canonical SPDI:: NC_000023.11:21374925:A:G
Gene:: CNKSR2 (Varview), LOC105373146 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.21374926A>G, NC_000023.10:g.21393044A>G, NG_016266.1:g.5509A>G, NM_014927.5:c.29A>G, NM_014927.4:c.29A>G, NM_014927.3:c.29A>G, NM_001168648.3:c.29A>G, NM_001168648.2:c.29A>G, NM_001168648.1:c.29A>G, NM_001168649.3:c.29A>G, NM_001168649.2:c.29A>G, NM_001168649.1:c.29A>G, NM_001168647.3:c.29A>G, NM_001168647.2:c.29A>G, NM_001168647.1:c.29A>G, NM_001330773.2:c.29A>G, NM_001330773.1:c.29A>G, NM_001330771.2:c.29A>G, NM_001330771.1:c.29A>G, NM_001330770.2:c.29A>G, NM_001330770.1:c.29A>G, NM_001330772.2:c.29A>G, NM_001330772.1:c.29A>G, XM_011545471.4:c.29A>G, XM_011545471.3:c.29A>G, XM_011545471.2:c.29A>G, XM_011545471.1:c.29A>G, XM_011545472.4:c.29A>G, XM_011545472.3:c.29A>G, XM_011545472.2:c.29A>G, XM_011545472.1:c.29A>G, XM_017029358.3:c.29A>G, XM_017029358.2:c.29A>G, XM_017029358.1:c.29A>G, NP_055742.2:p.Lys10Arg, NP_001162119.1:p.Lys10Arg, NP_001162120.1:p.Lys10Arg, NP_001162118.1:p.Lys10Arg, NP_001317702.1:p.Lys10Arg, NP_001317700.1:p.Lys10Arg, NP_001317699.1:p.Lys10Arg, NP_001317701.1:p.Lys10Arg, XP_011543773.1:p.Lys10Arg, XP_011543774.1:p.Lys10Arg, XP_016884847.1:p.Lys10Arg

Select item 144727159120.

rs1447271591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:21426610 (GRCh38)
X:21444728 (GRCh37)
Canonical SPDI:: NC_000023.11:21426609:A:G
Gene:: CNKSR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.21426610A>G, NC_000023.10:g.21444728A>G, NG_016266.1:g.57193A>G, NM_014927.5:c.178A>G, NM_014927.4:c.178A>G, NM_014927.3:c.178A>G, NM_001168648.3:c.178A>G, NM_001168648.2:c.178A>G, NM_001168648.1:c.178A>G, NM_001168649.3:c.178A>G, NM_001168649.2:c.178A>G, NM_001168649.1:c.178A>G, NM_001168647.3:c.178A>G, NM_001168647.2:c.178A>G, NM_001168647.1:c.178A>G, NM_001330773.2:c.178A>G, NM_001330773.1:c.178A>G, NM_001330771.2:c.178A>G, NM_001330771.1:c.178A>G, NM_001330770.2:c.178A>G, NM_001330770.1:c.178A>G, NM_001330772.2:c.178A>G, NM_001330772.1:c.178A>G, XM_011545471.4:c.178A>G, XM_011545471.3:c.178A>G, XM_011545471.2:c.178A>G, XM_011545471.1:c.178A>G, XM_011545472.4:c.178A>G, XM_011545472.3:c.178A>G, XM_011545472.2:c.178A>G, XM_011545472.1:c.178A>G, XM_017029358.3:c.178A>G, XM_017029358.2:c.178A>G, XM_017029358.1:c.178A>G, NP_055742.2:p.Ile60Val, NP_001162119.1:p.Ile60Val, NP_001162120.1:p.Ile60Val, NP_001162118.1:p.Ile60Val, NP_001317702.1:p.Ile60Val, NP_001317700.1:p.Ile60Val, NP_001317699.1:p.Ile60Val, NP_001317701.1:p.Ile60Val, XP_011543773.1:p.Ile60Val, XP_011543774.1:p.Ile60Val, XP_016884847.1:p.Ile60Val

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