Canonical Allele Identifier: CA1188035043

Gene: CELSR2

Linked Data

• dbSNP Id: rs1656129029
• gnomAD v3: 1-109264381-T-TG
• gnomAD v4: 1-109264381-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264382dup , CM000663.2:g.109264382dup	GRCh38
NC_000001.10:g.109807004dup , CM000663.1:g.109807004dup	GRCh37
NC_000001.9:g.109608527dup	NCBI36
NG_052669.1:g.19678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+17dup MANE Select	ENSP00000271332.3:n.5289+17dup
ENST00000271332.3:c.5289+17dup	ENSP00000271332.3:n.5289+17dup
NM_001408.2:c.5289+17dup	NP_001399.1:n.5289+17dup
XM_005270580.3:c.5289+17dup	XP_005270637.1:n.5289+17dup
NM_001408.3:c.5289+17dup MANE Select	NP_001399.1:n.5289+17dup