Canonical Allele Identifier: CA341501912

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109806983T>G (hg19) ; chr1:g.109264361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264361T>G , CM000663.2:g.109264361T>G	GRCh38
NC_000001.10:g.109806983T>G , CM000663.1:g.109806983T>G	GRCh37
NC_000001.9:g.109608506T>G	NCBI36
NG_052669.1:g.19657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5285T>G MANE Select	ENSP00000271332.3:p.Leu1762Trp
ENST00000271332.3:c.5285T>G	ENSP00000271332.3:p.Leu1762Trp
NM_001408.2:c.5285T>G	NP_001399.1:p.Leu1762Trp
XM_005270580.3:c.5285T>G	XP_005270637.1:p.Leu1762Trp
NM_001408.3:c.5285T>G MANE Select	NP_001399.1:p.Leu1762Trp