Canonical Allele Identifier: CA341501446

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109806767A>C (hg19) ; chr1:g.109264145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264145A>C , CM000663.2:g.109264145A>C	GRCh38
NC_000001.10:g.109806767A>C , CM000663.1:g.109806767A>C	GRCh37
NC_000001.9:g.109608290A>C	NCBI36
NG_052669.1:g.19441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5069A>C MANE Select	ENSP00000271332.3:p.Glu1690Ala
ENST00000271332.3:c.5069A>C	ENSP00000271332.3:p.Glu1690Ala
NM_001408.2:c.5069A>C	NP_001399.1:p.Glu1690Ala
XM_005270580.3:c.5069A>C	XP_005270637.1:p.Glu1690Ala
NM_001408.3:c.5069A>C MANE Select	NP_001399.1:p.Glu1690Ala