Canonical Allele Identifier: CA341501261

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109806720G>T (hg19) ; chr1:g.109264098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264098G>T , CM000663.2:g.109264098G>T	GRCh38
NC_000001.10:g.109806720G>T , CM000663.1:g.109806720G>T	GRCh37
NC_000001.9:g.109608243G>T	NCBI36
NG_052669.1:g.19394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5022G>T MANE Select	ENSP00000271332.3:p.Met1674Ile
ENST00000271332.3:c.5022G>T	ENSP00000271332.3:p.Met1674Ile
NM_001408.2:c.5022G>T	NP_001399.1:p.Met1674Ile
XM_005270580.3:c.5022G>T	XP_005270637.1:p.Met1674Ile
NM_001408.3:c.5022G>T MANE Select	NP_001399.1:p.Met1674Ile