SNP Links for Protein (Select 283806628) - SNP

Links from Protein

Items: 1 to 20 of 119

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Select item 14906466721.

rs1490646672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928674 (GRCh38)
X:106171904 (GRCh37)
Canonical SPDI:: NC_000023.11:106928673:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106928674C>T, NC_000023.10:g.106171904C>T, NG_016445.1:g.33511C>T, NM_020384.4:c.446C>T, NM_020384.3:c.446C>T, NM_001171095.2:c.446C>T, NM_001171095.1:c.446C>T, NM_001171092.1:c.446C>T, NP_065117.1:p.Ser149Leu, NP_001164566.1:p.Ser149Leu, NP_001164563.1:p.Ser149Leu

Select item 14631186042.

rs1463118604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928896 (GRCh38)
X:106172126 (GRCh37)
Canonical SPDI:: NC_000023.11:106928895:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106928896C>T, NC_000023.10:g.106172126C>T, NG_016445.1:g.33733C>T, NM_020384.4:c.668C>T, NM_020384.3:c.668C>T, NM_001171095.2:c.668C>T, NM_001171095.1:c.668C>T, NM_001171092.1:c.668C>T, NP_065117.1:p.Ser223Phe, NP_001164566.1:p.Ser223Phe, NP_001164563.1:p.Ser223Phe

Select item 14463011173.

rs1446301117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106928582 (GRCh38)
X:106171812 (GRCh37)
Canonical SPDI:: NC_000023.11:106928581:G:A
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.106928582G>A, NC_000023.10:g.106171812G>A, NG_016445.1:g.33419G>A, NM_020384.4:c.354G>A, NM_020384.3:c.354G>A, NM_001171095.2:c.354G>A, NM_001171095.1:c.354G>A, NM_001171092.1:c.354G>A

Select item 14415790954.

rs1441579095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106928286 (GRCh38)
X:106171516 (GRCh37)
Canonical SPDI:: NC_000023.11:106928285:G:A
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928286G>A, NC_000023.10:g.106171516G>A, NG_016445.1:g.33123G>A, NM_020384.4:c.58G>A, NM_020384.3:c.58G>A, NM_001171095.2:c.58G>A, NM_001171095.1:c.58G>A, NM_001171092.1:c.58G>A, NP_065117.1:p.Gly20Ser, NP_001164566.1:p.Gly20Ser, NP_001164563.1:p.Gly20Ser

Select item 14289838415.

rs1428983841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928404 (GRCh38)
X:106171634 (GRCh37)
Canonical SPDI:: NC_000023.11:106928403:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928404C>T, NC_000023.10:g.106171634C>T, NG_016445.1:g.33241C>T, NM_020384.4:c.176C>T, NM_020384.3:c.176C>T, NM_001171095.2:c.176C>T, NM_001171095.1:c.176C>T, NM_001171092.1:c.176C>T, NP_065117.1:p.Thr59Ile, NP_001164566.1:p.Thr59Ile, NP_001164563.1:p.Thr59Ile

Select item 14237209296.

rs1423720929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106928732 (GRCh38)
X:106171962 (GRCh37)
Canonical SPDI:: NC_000023.11:106928731:T:C
Gene:: CLDN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.106928732T>C, NC_000023.10:g.106171962T>C, NG_016445.1:g.33569T>C, NM_020384.4:c.504T>C, NM_020384.3:c.504T>C, NM_001171095.2:c.504T>C, NM_001171095.1:c.504T>C, NM_001171092.1:c.504T>C

Select item 14216901197.

rs1421690119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106928588 (GRCh38)
X:106171818 (GRCh37)
Canonical SPDI:: NC_000023.11:106928587:A:G
Gene:: CLDN2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.106928588A>G, NC_000023.10:g.106171818A>G, NG_016445.1:g.33425A>G, NM_020384.4:c.360A>G, NM_020384.3:c.360A>G, NM_001171095.2:c.360A>G, NM_001171095.1:c.360A>G, NM_001171092.1:c.360A>G

Select item 14205015908.

rs1420501590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106928811 (GRCh38)
X:106172041 (GRCh37)
Canonical SPDI:: NC_000023.11:106928810:T:C
Gene:: CLDN2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.106928811T>C, NC_000023.10:g.106172041T>C, NG_016445.1:g.33648T>C, NM_020384.4:c.583T>C, NM_020384.3:c.583T>C, NM_001171095.2:c.583T>C, NM_001171095.1:c.583T>C, NM_001171092.1:c.583T>C, NP_065117.1:p.Tyr195His, NP_001164566.1:p.Tyr195His, NP_001164563.1:p.Tyr195His

Select item 14055276239.

rs1405527623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:106928616 (GRCh38)
X:106171846 (GRCh37)
Canonical SPDI:: NC_000023.11:106928615:C:G
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.106928616C>G, NC_000023.10:g.106171846C>G, NG_016445.1:g.33453C>G, NM_020384.4:c.388C>G, NM_020384.3:c.388C>G, NM_001171095.2:c.388C>G, NM_001171095.1:c.388C>G, NM_001171092.1:c.388C>G, NP_065117.1:p.Leu130Val, NP_001164566.1:p.Leu130Val, NP_001164563.1:p.Leu130Val

Select item 137173849610.

rs1371738496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928581 (GRCh38)
X:106171811 (GRCh37)
Canonical SPDI:: NC_000023.11:106928580:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928581C>T, NC_000023.10:g.106171811C>T, NG_016445.1:g.33418C>T, NM_020384.4:c.353C>T, NM_020384.3:c.353C>T, NM_001171095.2:c.353C>T, NM_001171095.1:c.353C>T, NM_001171092.1:c.353C>T, NP_065117.1:p.Ala118Val, NP_001164566.1:p.Ala118Val, NP_001164563.1:p.Ala118Val

Select item 136537783311.

rs1365377833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928849 (GRCh38)
X:106172079 (GRCh37)
Canonical SPDI:: NC_000023.11:106928848:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.106928849C>T, NC_000023.10:g.106172079C>T, NG_016445.1:g.33686C>T, NM_020384.4:c.621C>T, NM_020384.3:c.621C>T, NM_001171095.2:c.621C>T, NM_001171095.1:c.621C>T, NM_001171092.1:c.621C>T

Select item 135886706512.

rs1358867065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928411 (GRCh38)
X:106171641 (GRCh37)
Canonical SPDI:: NC_000023.11:106928410:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.106928411C>T, NC_000023.10:g.106171641C>T, NG_016445.1:g.33248C>T, NM_020384.4:c.183C>T, NM_020384.3:c.183C>T, NM_001171095.2:c.183C>T, NM_001171095.1:c.183C>T, NM_001171092.1:c.183C>T

Select item 134360843613.

rs1343608436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928661 (GRCh38)
X:106171891 (GRCh37)
Canonical SPDI:: NC_000023.11:106928660:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928661C>T, NC_000023.10:g.106171891C>T, NG_016445.1:g.33498C>T, NM_020384.4:c.433C>T, NM_020384.3:c.433C>T, NM_001171095.2:c.433C>T, NM_001171095.1:c.433C>T, NM_001171092.1:c.433C>T, NP_065117.1:p.Arg145Trp, NP_001164566.1:p.Arg145Trp, NP_001164563.1:p.Arg145Trp

Select item 134027127714.

rs1340271277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106928394 (GRCh38)
X:106171624 (GRCh37)
Canonical SPDI:: NC_000023.11:106928393:A:G
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.106928394A>G, NC_000023.10:g.106171624A>G, NG_016445.1:g.33231A>G, NM_020384.4:c.166A>G, NM_020384.3:c.166A>G, NM_001171095.2:c.166A>G, NM_001171095.1:c.166A>G, NM_001171092.1:c.166A>G, NP_065117.1:p.Thr56Ala, NP_001164566.1:p.Thr56Ala, NP_001164563.1:p.Thr56Ala

Select item 133978880315.

rs1339788803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:106928241 (GRCh38)
X:106171471 (GRCh37)
Canonical SPDI:: NC_000023.11:106928240:G:C
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106928241G>C, NC_000023.10:g.106171471G>C, NG_016445.1:g.33078G>C, NM_020384.4:c.13G>C, NM_020384.3:c.13G>C, NM_001171095.2:c.13G>C, NM_001171095.1:c.13G>C, NM_001171092.1:c.13G>C, NP_065117.1:p.Gly5Arg, NP_001164566.1:p.Gly5Arg, NP_001164563.1:p.Gly5Arg

Select item 133797630516.

rs1337976305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106928755 (GRCh38)
X:106171985 (GRCh37)
Canonical SPDI:: NC_000023.11:106928754:T:C
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.106928755T>C, NC_000023.10:g.106171985T>C, NG_016445.1:g.33592T>C, NM_020384.4:c.527T>C, NM_020384.3:c.527T>C, NM_001171095.2:c.527T>C, NM_001171095.1:c.527T>C, NM_001171092.1:c.527T>C, NP_065117.1:p.Ile176Thr, NP_001164566.1:p.Ile176Thr, NP_001164563.1:p.Ile176Thr

Select item 133046222517.

rs1330462225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:106928784 (GRCh38)
X:106172014 (GRCh37)
Canonical SPDI:: NC_000023.11:106928783:T:G
Gene:: CLDN2 (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.106928784T>G, NC_000023.10:g.106172014T>G, NG_016445.1:g.33621T>G, NM_020384.4:c.556T>G, NM_020384.3:c.556T>G, NM_001171095.2:c.556T>G, NM_001171095.1:c.556T>G, NM_001171092.1:c.556T>G, NP_065117.1:p.Ser186Ala, NP_001164566.1:p.Ser186Ala, NP_001164563.1:p.Ser186Ala

Select item 132449165918.

rs1324491659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928627 (GRCh38)
X:106171857 (GRCh37)
Canonical SPDI:: NC_000023.11:106928626:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928627C>T, NC_000023.10:g.106171857C>T, NG_016445.1:g.33464C>T, NM_020384.4:c.399C>T, NM_020384.3:c.399C>T, NM_001171095.2:c.399C>T, NM_001171095.1:c.399C>T, NM_001171092.1:c.399C>T

Select item 132258175319.

rs1322581753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106928309 (GRCh38)
X:106171539 (GRCh37)
Canonical SPDI:: NC_000023.11:106928308:C:T
Gene:: CLDN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106928309C>T, NC_000023.10:g.106171539C>T, NG_016445.1:g.33146C>T, NM_020384.4:c.81C>T, NM_020384.3:c.81C>T, NM_001171095.2:c.81C>T, NM_001171095.1:c.81C>T, NM_001171092.1:c.81C>T

Select item 129957133920.

rs1299571339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106928484 (GRCh38)
X:106171714 (GRCh37)
Canonical SPDI:: NC_000023.11:106928483:A:G
Gene:: CLDN2 (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.106928484A>G, NC_000023.10:g.106171714A>G, NG_016445.1:g.33321A>G, NM_020384.4:c.256A>G, NM_020384.3:c.256A>G, NM_001171095.2:c.256A>G, NM_001171095.1:c.256A>G, NM_001171092.1:c.256A>G, NP_065117.1:p.Thr86Ala, NP_001164566.1:p.Thr86Ala, NP_001164563.1:p.Thr86Ala

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