Canonical Allele Identifier: CA1005627692

Gene: CELSR2

Linked Data

• dbSNP Id: rs1656129276
• gnomAD v3: 1-109264385-C-CA
• gnomAD v4: 1-109264385-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264385_109264386insA , CM000663.2:g.109264385_109264386insA	GRCh38
NC_000001.10:g.109807007_109807008insA , CM000663.1:g.109807007_109807008insA	GRCh37
NC_000001.9:g.109608530_109608531insA	NCBI36
NG_052669.1:g.19681_19682insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+20_5289+21insA MANE Select	ENSP00000271332.3:n.5289+20_5289+21insA
ENST00000271332.3:c.5289+20_5289+21insA	ENSP00000271332.3:n.5289+20_5289+21insA
NM_001408.2:c.5289+20_5289+21insA	NP_001399.1:n.5289+20_5289+21insA
XM_005270580.3:c.5289+20_5289+21insA	XP_005270637.1:n.5289+20_5289+21insA
NM_001408.3:c.5289+20_5289+21insA MANE Select	NP_001399.1:n.5289+20_5289+21insA