Canonical Allele Identifier: CA341502100

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109807152A>G (hg19) ; chr1:g.109264530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264530A>G , CM000663.2:g.109264530A>G	GRCh38
NC_000001.10:g.109807152A>G , CM000663.1:g.109807152A>G	GRCh37
NC_000001.9:g.109608675A>G	NCBI36
NG_052669.1:g.19826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5366A>G MANE Select	ENSP00000271332.3:p.Gln1789Arg
ENST00000271332.3:c.5366A>G	ENSP00000271332.3:p.Gln1789Arg
NM_001408.2:c.5366A>G	NP_001399.1:p.Gln1789Arg
XM_005270580.3:c.5366A>G	XP_005270637.1:p.Gln1789Arg
NM_001408.3:c.5366A>G MANE Select	NP_001399.1:p.Gln1789Arg