Canonical Allele Identifier: CA987505

Gene: CELSR2

Linked Data

• dbSNP Id: rs772568521
• ExAC: 1:109807059 G / A
• gnomAD v2: 1-109807059-G-A
• gnomAD v3: 1-109264437-G-A
• gnomAD v4: 1-109264437-G-A
• MyVariant Identifiers: chr1:g.109807059G>A (hg19) ; chr1:g.109264437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264437G>A , CM000663.2:g.109264437G>A	GRCh38
NC_000001.10:g.109807059G>A , CM000663.1:g.109807059G>A	GRCh37
NC_000001.9:g.109608582G>A	NCBI36
NG_052669.1:g.19733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5290-17G>A MANE Select	ENSP00000271332.3:n.5290-17G>A
ENST00000271332.3:c.5290-17G>A	ENSP00000271332.3:n.5290-17G>A
NM_001408.2:c.5290-17G>A	NP_001399.1:n.5290-17G>A
XM_005270580.3:c.5290-17G>A	XP_005270637.1:n.5290-17G>A
NM_001408.3:c.5290-17G>A MANE Select	NP_001399.1:n.5290-17G>A