Canonical Allele Identifier: CA987517
Gene: CELSR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083436
ClinVar RCV Id: RCV003009116
dbSNP Id: rs372896199
ExAC: 1:109807091 G / A
gnomAD v2: 1-109807091-G-A
gnomAD v3: 1-109264469-G-A
gnomAD v4: 1-109264469-G-A
MyVariant Identifiers: chr1:g.109807091G>A (hg19) chr1:g.109264469G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264469G>A , CM000663.2:g.109264469G>A GRCh38
NC_000001.10:g.109807091G>A , CM000663.1:g.109807091G>A GRCh37
NC_000001.9:g.109608614G>A NCBI36
NG_052669.1:g.19765G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5305G>A MANE Select ENSP00000271332.3:p.Asp1769Asn
ENST00000271332.3:c.5305G>A ENSP00000271332.3:p.Asp1769Asn
NM_001408.2:c.5305G>A NP_001399.1:p.Asp1769Asn
XM_005270580.3:c.5305G>A XP_005270637.1:p.Asp1769Asn
NM_001408.3:c.5305G>A MANE Select NP_001399.1:p.Asp1769Asn
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