Canonical Allele Identifier: CA341502176

Gene: CELSR2

Linked Data

• dbSNP Id: rs74763583
• gnomAD v2: 1-109807186-C-A
• gnomAD v4: 1-109264564-C-A
• MyVariant Identifiers: chr1:g.109807186C>A (hg19) ; chr1:g.109264564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264564C>A , CM000663.2:g.109264564C>A	GRCh38
NC_000001.10:g.109807186C>A , CM000663.1:g.109807186C>A	GRCh37
NC_000001.9:g.109608709C>A	NCBI36
NG_052669.1:g.19860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5400C>A MANE Select	ENSP00000271332.3:p.Asn1800Lys
ENST00000271332.3:c.5400C>A	ENSP00000271332.3:p.Asn1800Lys
NM_001408.2:c.5400C>A	NP_001399.1:p.Asn1800Lys
XM_005270580.3:c.5400C>A	XP_005270637.1:p.Asn1800Lys
NM_001408.3:c.5400C>A MANE Select	NP_001399.1:p.Asn1800Lys