Canonical Allele Identifier: CA987405

Gene: CELSR2

Linked Data

• dbSNP Id: rs750198846
• ExAC: 1:109806649 A / G
• gnomAD v2: 1-109806649-A-G
• gnomAD v3: 1-109264027-A-G
• gnomAD v4: 1-109264027-A-G
• MyVariant Identifiers: chr1:g.109806649A>G (hg19) ; chr1:g.109806649_109806650delinsGC (hg19) ; chr1:g.109264027A>G (hg38) ; chr1:g.109264027_109264028delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264027A>G , CM000663.2:g.109264027A>G	GRCh38
NC_000001.10:g.109806649A>G , CM000663.1:g.109806649A>G	GRCh37
NC_000001.9:g.109608172A>G	NCBI36
NG_052669.1:g.19323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5002-51A>G MANE Select	ENSP00000271332.3:n.5002-51A>G
ENST00000271332.3:c.5002-51A>G	ENSP00000271332.3:n.5002-51A>G
NM_001408.2:c.5002-51A>G	NP_001399.1:n.5002-51A>G
XM_005270580.3:c.5002-51A>G	XP_005270637.1:n.5002-51A>G
NM_001408.3:c.5002-51A>G MANE Select	NP_001399.1:n.5002-51A>G