Canonical Allele Identifier: CA341501594

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109806820G>C (hg19) ; chr1:g.109264198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264198G>C , CM000663.2:g.109264198G>C	GRCh38
NC_000001.10:g.109806820G>C , CM000663.1:g.109806820G>C	GRCh37
NC_000001.9:g.109608343G>C	NCBI36
NG_052669.1:g.19494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5122G>C MANE Select	ENSP00000271332.3:p.Ala1708Pro
ENST00000271332.3:c.5122G>C	ENSP00000271332.3:p.Ala1708Pro
NM_001408.2:c.5122G>C	NP_001399.1:p.Ala1708Pro
XM_005270580.3:c.5122G>C	XP_005270637.1:p.Ala1708Pro
NM_001408.3:c.5122G>C MANE Select	NP_001399.1:p.Ala1708Pro