Canonical Allele Identifier: CA987511
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs751984886
ExAC: 1:109807081 G / A
gnomAD v2: 1-109807081-G-A
gnomAD v4: 1-109264459-G-A
MyVariant Identifiers: chr1:g.109807081G>A (hg19) chr1:g.109264459G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264459G>A , CM000663.2:g.109264459G>A GRCh38
NC_000001.10:g.109807081G>A , CM000663.1:g.109807081G>A GRCh37
NC_000001.9:g.109608604G>A NCBI36
NG_052669.1:g.19755G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5295G>A MANE Select ENSP00000271332.3:p.Val1765=
ENST00000271332.3:c.5295G>A ENSP00000271332.3:p.Val1765=
NM_001408.2:c.5295G>A NP_001399.1:p.Val1765=
XM_005270580.3:c.5295G>A XP_005270637.1:p.Val1765=
NM_001408.3:c.5295G>A MANE Select NP_001399.1:p.Val1765=
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