Canonical Allele Identifier: CA987418
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs764572183
ExAC: 1:109806727 G / A
gnomAD v2: 1-109806727-G-A
gnomAD v4: 1-109264105-G-A
COSMIC: COSM2117567
MyVariant Identifiers: chr1:g.109806727G>A (hg19) chr1:g.109264105G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264105G>A , CM000663.2:g.109264105G>A GRCh38
NC_000001.10:g.109806727G>A , CM000663.1:g.109806727G>A GRCh37
NC_000001.9:g.109608250G>A NCBI36
NG_052669.1:g.19401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5029G>A MANE Select ENSP00000271332.3:p.Val1677Met
ENST00000271332.3:c.5029G>A ENSP00000271332.3:p.Val1677Met
NM_001408.2:c.5029G>A NP_001399.1:p.Val1677Met
XM_005270580.3:c.5029G>A XP_005270637.1:p.Val1677Met
NM_001408.3:c.5029G>A MANE Select NP_001399.1:p.Val1677Met
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