Canonical Allele Identifier: CA987519

Gene: CELSR2

Linked Data

• ClinVar Variation Id: 2084527
• ClinVar RCV Id: RCV003011181
• dbSNP Id: rs149305357
• ExAC: 1:109807096 G / A
• gnomAD v2: 1-109807096-G-A
• gnomAD v3: 1-109264474-G-A
• gnomAD v4: 1-109264474-G-A
• MyVariant Identifiers: chr1:g.109807096G>A (hg19) ; chr1:g.109264474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264474G>A , CM000663.2:g.109264474G>A	GRCh38
NC_000001.10:g.109807096G>A , CM000663.1:g.109807096G>A	GRCh37
NC_000001.9:g.109608619G>A	NCBI36
NG_052669.1:g.19770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5310G>A MANE Select	ENSP00000271332.3:p.Thr1770=
ENST00000271332.3:c.5310G>A	ENSP00000271332.3:p.Thr1770=
NM_001408.2:c.5310G>A	NP_001399.1:p.Thr1770=
XM_005270580.3:c.5310G>A	XP_005270637.1:p.Thr1770=
NM_001408.3:c.5310G>A MANE Select	NP_001399.1:p.Thr1770=