SNP Links for Protein (Select 513126877) - SNP

Links from Protein

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Select item 14902411421.

rs1490241142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46084292 (GRCh38)
13:46658427 (GRCh37)
Canonical SPDI:: NC_000013.11:46084291:C:T
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000013.11:g.46084292C>T, NC_000013.10:g.46658427C>T, NG_032893.2:g.25742G>A, NM_001872.5:c.202G>A, NM_001872.4:c.202G>A, NM_001278541.2:c.202G>A, NM_001278541.1:c.202G>A, XM_017020393.3:c.175G>A, XM_017020393.2:c.175G>A, XM_017020393.1:c.175G>A, NM_016413.3:c.202G>A, NM_016413.2:c.202G>A, NM_016413.1:c.202G>A, NP_001863.3:p.Val68Ile, NP_001265470.1:p.Val68Ile, XP_016875882.1:p.Val59Ile

Select item 14887244082.

rs1488724408 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 13:46073949 (GRCh38)
13:46648084 (GRCh37)
Canonical SPDI:: NC_000013.11:46073948:TTTTT:TTTT,NC_000013.11:46073948:TTTTT:TTTTTT
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.46073953del, NC_000013.11:g.46073953dup, NC_000013.10:g.46648088del, NC_000013.10:g.46648088dup, NG_032893.2:g.36085del, NG_032893.2:g.36085dup, NM_001872.5:c.515del, NM_001872.5:c.515dup, NM_001872.4:c.515del, NM_001872.4:c.515dup, NM_001278541.2:c.515del, NM_001278541.2:c.515dup, NM_001278541.1:c.515del, NM_001278541.1:c.515dup, XM_017020393.3:c.488del, XM_017020393.3:c.488dup, XM_017020393.2:c.488del, XM_017020393.2:c.488dup, XM_017020393.1:c.488del, XM_017020393.1:c.488dup, NM_016413.3:c.515del, NM_016413.3:c.515dup, NM_016413.2:c.515del, NM_016413.2:c.515dup, NM_016413.1:c.515del, NM_016413.1:c.515dup, NP_001863.3:p.Asn172fs, NP_001863.3:p.Asn172fs, NP_001265470.1:p.Asn172fs, NP_001265470.1:p.Asn172fs, XP_016875882.1:p.Asn163fs, XP_016875882.1:p.Asn163fs

Select item 14882759183.

rs1488275918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46064657 (GRCh38)
13:46638792 (GRCh37)
Canonical SPDI:: NC_000013.11:46064656:G:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.46064657G>A, NC_000013.10:g.46638792G>A, NG_032893.2:g.45377C>T, NM_001872.5:c.787C>T, NM_001872.4:c.787C>T, NM_001278541.2:c.676C>T, NM_001278541.1:c.676C>T, XM_017020393.3:c.760C>T, XM_017020393.2:c.760C>T, XM_017020393.1:c.760C>T, NM_016413.3:c.676C>T, NM_016413.2:c.676C>T, NM_016413.1:c.676C>T, NP_001863.3:p.His263Tyr, NP_001265470.1:p.His226Tyr, XP_016875882.1:p.His254Tyr

Select item 14875974344.

rs1487597434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:46053650 (GRCh38)
13:46627785 (GRCh37)
Canonical SPDI:: NC_000013.11:46053649:G:A,NC_000013.11:46053649:G:C
Gene:: CPB2 (Varview), ZC3H13 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46053650G>A, NC_000013.11:g.46053650G>C, NC_000013.10:g.46627785G>A, NC_000013.10:g.46627785G>C, NG_032893.2:g.56384C>T, NG_032893.2:g.56384C>G, NM_001872.5:c.1236C>T, NM_001872.5:c.1236C>G, NM_001872.4:c.1236C>T, NM_001872.4:c.1236C>G, NM_001278541.2:c.1125C>T, NM_001278541.2:c.1125C>G, NM_001278541.1:c.1125C>T, NM_001278541.1:c.1125C>G, XM_017020393.3:c.1209C>T, XM_017020393.3:c.1209C>G, XM_017020393.2:c.1209C>T, XM_017020393.2:c.1209C>G, XM_017020393.1:c.1209C>T, XM_017020393.1:c.1209C>G, NM_016413.3:c.1073C>T, NM_016413.3:c.1073C>G, NM_016413.2:c.1073C>T, NM_016413.2:c.1073C>G, NM_016413.1:c.1073C>T, NM_016413.1:c.1073C>G

Select item 14824009935.

rs1482400993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:46058222 (GRCh38)
13:46632357 (GRCh37)
Canonical SPDI:: NC_000013.11:46058221:G:T
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46058222G>T, NC_000013.10:g.46632357G>T, NG_032893.2:g.51812C>A, NM_001872.5:c.956C>A, NM_001872.4:c.956C>A, NM_001278541.2:c.845C>A, NM_001278541.1:c.845C>A, XM_017020393.3:c.929C>A, XM_017020393.2:c.929C>A, XM_017020393.1:c.929C>A, NM_016413.3:c.845C>A, NM_016413.2:c.845C>A, NM_016413.1:c.845C>A, NP_001863.3:p.Pro319Gln, NP_001265470.1:p.Pro282Gln, XP_016875882.1:p.Pro310Gln

Select item 14806057916.

rs1480605791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46078833 (GRCh38)
13:46652968 (GRCh37)
Canonical SPDI:: NC_000013.11:46078832:G:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46078833G>A, NC_000013.10:g.46652968G>A, NG_032893.2:g.31201C>T, NM_001872.5:c.453C>T, NM_001872.4:c.453C>T, NM_001278541.2:c.453C>T, NM_001278541.1:c.453C>T, XM_017020393.3:c.426C>T, XM_017020393.2:c.426C>T, XM_017020393.1:c.426C>T, NM_016413.3:c.453C>T, NM_016413.2:c.453C>T, NM_016413.1:c.453C>T

Select item 14773084417.

rs1477308441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:46073901 (GRCh38)
13:46648036 (GRCh37)
Canonical SPDI:: NC_000013.11:46073900:G:A,NC_000013.11:46073900:G:C
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46073901G>A, NC_000013.11:g.46073901G>C, NC_000013.10:g.46648036G>A, NC_000013.10:g.46648036G>C, NG_032893.2:g.36133C>T, NG_032893.2:g.36133C>G, NM_001872.5:c.563C>T, NM_001872.5:c.563C>G, NM_001872.4:c.563C>T, NM_001872.4:c.563C>G, NM_001278541.2:c.563C>T, NM_001278541.2:c.563C>G, NM_001278541.1:c.563C>T, NM_001278541.1:c.563C>G, XM_017020393.3:c.536C>T, XM_017020393.3:c.536C>G, XM_017020393.2:c.536C>T, XM_017020393.2:c.536C>G, XM_017020393.1:c.536C>T, XM_017020393.1:c.536C>G, NM_016413.3:c.563C>T, NM_016413.3:c.563C>G, NM_016413.2:c.563C>T, NM_016413.2:c.563C>G, NM_016413.1:c.563C>T, NM_016413.1:c.563C>G, NP_001863.3:p.Pro188Leu, NP_001863.3:p.Pro188Arg, NP_001265470.1:p.Pro188Leu, NP_001265470.1:p.Pro188Arg, XP_016875882.1:p.Pro179Leu, XP_016875882.1:p.Pro179Arg

Select item 14767184898.

rs1476718489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46104973 (GRCh38)
13:46679108 (GRCh37)
Canonical SPDI:: NC_000013.11:46104972:C:T
Gene:: CPB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46104973C>T, NC_000013.10:g.46679108C>T, NG_032893.2:g.5061G>A, NM_001872.5:c.37G>A, NM_001872.4:c.37G>A, NM_001278541.2:c.37G>A, NM_001278541.1:c.37G>A, NM_016413.3:c.37G>A, NM_016413.2:c.37G>A, NM_016413.1:c.37G>A, NP_001863.3:p.Val13Ile, NP_001265470.1:p.Val13Ile

Select item 14763161789.

rs1476316178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46055839 (GRCh38)
13:46629974 (GRCh37)
Canonical SPDI:: NC_000013.11:46055838:G:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46055839G>A, NC_000013.10:g.46629974G>A, NG_032893.2:g.54195C>T, NM_001872.5:c.1010C>T, NM_001872.4:c.1010C>T, NM_001278541.2:c.899C>T, NM_001278541.1:c.899C>T, XM_017020393.3:c.983C>T, XM_017020393.2:c.983C>T, XM_017020393.1:c.983C>T, NM_016413.3:c.899C>T, NM_016413.2:c.899C>T, NM_016413.1:c.899C>T, NP_001863.3:p.Ala337Val, NP_001265470.1:p.Ala300Val, XP_016875882.1:p.Ala328Val

Select item 147483405710.

rs1474834057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46082470 (GRCh38)
13:46656605 (GRCh37)
Canonical SPDI:: NC_000013.11:46082469:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.46082470A>G, NC_000013.10:g.46656605A>G, NG_032893.2:g.27564T>C, NM_001872.5:c.355T>C, NM_001872.4:c.355T>C, NM_001278541.2:c.355T>C, NM_001278541.1:c.355T>C, XM_017020393.3:c.328T>C, XM_017020393.2:c.328T>C, XM_017020393.1:c.328T>C, NM_016413.3:c.355T>C, NM_016413.2:c.355T>C, NM_016413.1:c.355T>C, NP_001863.3:p.Tyr119His, NP_001265470.1:p.Tyr119His, XP_016875882.1:p.Tyr110His

Select item 147332877811.

rs1473328778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:46058316 (GRCh38)
13:46632451 (GRCh37)
Canonical SPDI:: NC_000013.11:46058315:C:T
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.46058316C>T, NC_000013.10:g.46632451C>T, NG_032893.2:g.51718G>A, NM_001872.5:c.862G>A, NM_001872.4:c.862G>A, NM_001278541.2:c.751G>A, NM_001278541.1:c.751G>A, XM_017020393.3:c.835G>A, XM_017020393.2:c.835G>A, XM_017020393.1:c.835G>A, NM_016413.3:c.751G>A, NM_016413.2:c.751G>A, NM_016413.1:c.751G>A, NP_001863.3:p.Glu288Lys, NP_001265470.1:p.Glu251Lys, XP_016875882.1:p.Glu279Lys

Select item 147063653312.

rs1470636533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:46087780 (GRCh38)
13:46661915 (GRCh37)
Canonical SPDI:: NC_000013.11:46087779:C:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.46087780C>G, NC_000013.10:g.46661915C>G, NG_032893.2:g.22254G>C, NM_001872.5:c.115G>C, NM_001872.4:c.115G>C, NM_001278541.2:c.115G>C, NM_001278541.1:c.115G>C, XM_017020393.3:c.88G>C, XM_017020393.2:c.88G>C, XM_017020393.1:c.88G>C, NM_016413.3:c.115G>C, NM_016413.2:c.115G>C, NM_016413.1:c.115G>C, NP_001863.3:p.Val39Leu, NP_001265470.1:p.Val39Leu, XP_016875882.1:p.Val30Leu

Select item 146770884613.

rs1467708846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:46078848 (GRCh38)
13:46652983 (GRCh37)
Canonical SPDI:: NC_000013.11:46078847:T:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46078848T>G, NC_000013.10:g.46652983T>G, NG_032893.2:g.31186A>C, NM_001872.5:c.438A>C, NM_001872.4:c.438A>C, NM_001278541.2:c.438A>C, NM_001278541.1:c.438A>C, XM_017020393.3:c.411A>C, XM_017020393.2:c.411A>C, XM_017020393.1:c.411A>C, NM_016413.3:c.438A>C, NM_016413.2:c.438A>C, NM_016413.1:c.438A>C, NP_001863.3:p.Lys146Asn, NP_001265470.1:p.Lys146Asn, XP_016875882.1:p.Lys137Asn

Select item 146541860214.

rs1465418602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46053776 (GRCh38)
13:46627911 (GRCh37)
Canonical SPDI:: NC_000013.11:46053775:G:A
Gene:: CPB2 (Varview), ZC3H13 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46053776G>A, NC_000013.10:g.46627911G>A, NG_032893.2:g.56258C>T, NM_001872.5:c.1110C>T, NM_001872.4:c.1110C>T, NM_001278541.2:c.999C>T, NM_001278541.1:c.999C>T, XM_017020393.3:c.1083C>T, XM_017020393.2:c.1083C>T, XM_017020393.1:c.1083C>T, NM_016413.3:c.999C>T, NM_016413.2:c.999C>T, NM_016413.1:c.999C>T

Select item 146443324115.

rs1464433241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46058343 (GRCh38)
13:46632478 (GRCh37)
Canonical SPDI:: NC_000013.11:46058342:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.46058343A>G, NC_000013.10:g.46632478A>G, NG_032893.2:g.51691T>C, NM_001872.5:c.835T>C, NM_001872.4:c.835T>C, NM_001278541.2:c.724T>C, NM_001278541.1:c.724T>C, XM_017020393.3:c.808T>C, XM_017020393.2:c.808T>C, XM_017020393.1:c.808T>C, NM_016413.3:c.724T>C, NM_016413.2:c.724T>C, NM_016413.1:c.724T>C, NP_001863.3:p.Cys279Arg, NP_001265470.1:p.Cys242Arg, XP_016875882.1:p.Cys270Arg

Select item 146314426716.

rs1463144267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46055762 (GRCh38)
13:46629897 (GRCh37)
Canonical SPDI:: NC_000013.11:46055761:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46055762A>G, NC_000013.10:g.46629897A>G, NG_032893.2:g.54272T>C, NM_001872.5:c.1087T>C, NM_001872.4:c.1087T>C, NM_001278541.2:c.976T>C, NM_001278541.1:c.976T>C, XM_017020393.3:c.1060T>C, XM_017020393.2:c.1060T>C, XM_017020393.1:c.1060T>C, NM_016413.3:c.976T>C, NM_016413.2:c.976T>C, NM_016413.1:c.976T>C, NP_001863.3:p.Tyr363His, NP_001265470.1:p.Tyr326His, XP_016875882.1:p.Tyr354His

Select item 145992258117.

rs1459922581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:46084309 (GRCh38)
13:46658444 (GRCh37)
Canonical SPDI:: NC_000013.11:46084308:A:G
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.46084309A>G, NC_000013.10:g.46658444A>G, NG_032893.2:g.25725T>C, NM_001872.5:c.185T>C, NM_001872.4:c.185T>C, NM_001278541.2:c.185T>C, NM_001278541.1:c.185T>C, XM_017020393.3:c.158T>C, XM_017020393.2:c.158T>C, XM_017020393.1:c.158T>C, NM_016413.3:c.185T>C, NM_016413.2:c.185T>C, NM_016413.1:c.185T>C, NP_001863.3:p.Ile62Thr, NP_001265470.1:p.Ile62Thr, XP_016875882.1:p.Ile53Thr

Select item 145988114018.

rs1459881140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:46073875 (GRCh38)
13:46648010 (GRCh37)
Canonical SPDI:: NC_000013.11:46073874:G:A
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46073875G>A, NC_000013.10:g.46648010G>A, NG_032893.2:g.36159C>T, NM_001872.5:c.589C>T, NM_001872.4:c.589C>T, NM_001278541.2:c.589C>T, NM_001278541.1:c.589C>T, XM_017020393.3:c.562C>T, XM_017020393.2:c.562C>T, XM_017020393.1:c.562C>T, NM_016413.3:c.589C>T, NM_016413.2:c.589C>T, NM_016413.1:c.589C>T, NP_001863.3:p.His197Tyr, NP_001265470.1:p.His197Tyr, XP_016875882.1:p.His188Tyr

Select item 145741892719.

rs1457418927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:46058333 (GRCh38)
13:46632468 (GRCh37)
Canonical SPDI:: NC_000013.11:46058332:T:C
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.46058333T>C, NC_000013.10:g.46632468T>C, NG_032893.2:g.51701A>G, NM_001872.5:c.845A>G, NM_001872.4:c.845A>G, NM_001278541.2:c.734A>G, NM_001278541.1:c.734A>G, XM_017020393.3:c.818A>G, XM_017020393.2:c.818A>G, XM_017020393.1:c.818A>G, NM_016413.3:c.734A>G, NM_016413.2:c.734A>G, NM_016413.1:c.734A>G, NP_001863.3:p.Tyr282Cys, NP_001265470.1:p.Tyr245Cys, XP_016875882.1:p.Tyr273Cys

Select item 145026533220.

rs1450265332 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTATTCAGGTCTGTTCCGATGCAAT>- [Show Flanks]
Chromosome:: 13:46064673 (GRCh38)
13:46638808 (GRCh37)
Canonical SPDI:: NC_000013.11:46064671:TCCTATTCAGGTCTGTTCCGATGCAAT:T
Gene:: CPB2 (Varview), CPB2-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.46064673_46064698del, NC_000013.10:g.46638808_46638833del, NG_032893.2:g.45337_45362del, NM_001872.5:c.747_772del, NM_001872.4:c.747_772del, NM_001278541.2:c.636_661del, NM_001278541.1:c.636_661del, XM_017020393.3:c.720_745del, XM_017020393.2:c.720_745del, XM_017020393.1:c.720_745del, NM_016413.3:c.636_661del, NM_016413.2:c.636_661del, NM_016413.1:c.636_661del, NP_001863.3:p.His249fs, NP_001265470.1:p.His212fs, XP_016875882.1:p.His240fs

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