Canonical Allele Identifier: CA341501269

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109806722T>C (hg19) ; chr1:g.109264100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264100T>C , CM000663.2:g.109264100T>C	GRCh38
NC_000001.10:g.109806722T>C , CM000663.1:g.109806722T>C	GRCh37
NC_000001.9:g.109608245T>C	NCBI36
NG_052669.1:g.19396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5024T>C MANE Select	ENSP00000271332.3:p.Leu1675Pro
ENST00000271332.3:c.5024T>C	ENSP00000271332.3:p.Leu1675Pro
NM_001408.2:c.5024T>C	NP_001399.1:p.Leu1675Pro
XM_005270580.3:c.5024T>C	XP_005270637.1:p.Leu1675Pro
NM_001408.3:c.5024T>C MANE Select	NP_001399.1:p.Leu1675Pro