Canonical Allele Identifier: CA987500

Gene: CELSR2

Linked Data

• dbSNP Id: rs200476125
• ExAC: 1:109807042 C / A
• gnomAD v2: 1-109807042-C-A
• gnomAD v3: 1-109264420-C-A
• gnomAD v4: 1-109264420-C-A
• MyVariant Identifiers: chr1:g.109807042C>A (hg19) ; chr1:g.109264420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264420C>A , CM000663.2:g.109264420C>A	GRCh38
NC_000001.10:g.109807042C>A , CM000663.1:g.109807042C>A	GRCh37
NC_000001.9:g.109608565C>A	NCBI36
NG_052669.1:g.19716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5290-34C>A MANE Select	ENSP00000271332.3:n.5290-34C>A
ENST00000271332.3:c.5290-34C>A	ENSP00000271332.3:n.5290-34C>A
NM_001408.2:c.5290-34C>A	NP_001399.1:n.5290-34C>A
XM_005270580.3:c.5290-34C>A	XP_005270637.1:n.5290-34C>A
NM_001408.3:c.5290-34C>A MANE Select	NP_001399.1:n.5290-34C>A