Canonical Allele Identifier: CA28631977

Gene: CELSR2

Linked Data

• dbSNP Id: rs543334055
• gnomAD v2: 1-109806529-G-C
• gnomAD v3: 1-109263907-G-C
• gnomAD v4: 1-109263907-G-C
• MyVariant Identifiers: chr1:g.109806529G>C (hg19) ; chr1:g.109263907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109263907G>C , CM000663.2:g.109263907G>C	GRCh38
NC_000001.10:g.109806529G>C , CM000663.1:g.109806529G>C	GRCh37
NC_000001.9:g.109608052G>C	NCBI36
NG_052669.1:g.19203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5001+130G>C MANE Select	ENSP00000271332.3:n.5001+130G>C
ENST00000271332.3:c.5001+130G>C	ENSP00000271332.3:n.5001+130G>C
NM_001408.2:c.5001+130G>C	NP_001399.1:n.5001+130G>C
XM_005270580.3:c.5001+130G>C	XP_005270637.1:n.5001+130G>C
NM_001408.3:c.5001+130G>C MANE Select	NP_001399.1:n.5001+130G>C