Canonical Allele Identifier: CA419678440
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109806915G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264293G>C , CM000663.2:g.109264293G>C GRCh38
NC_000001.10:g.109806915G>C , CM000663.1:g.109806915G>C GRCh37
NC_000001.9:g.109608438G>C NCBI36
NG_052669.1:g.19589G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5217G>C MANE Select ENSP00000271332.3:p.Leu1739=
ENST00000271332.3:c.5217G>C ENSP00000271332.3:p.Leu1739=
NM_001408.2:c.5217G>C NP_001399.1:p.Leu1739=
XM_005270580.3:c.5217G>C XP_005270637.1:p.Leu1739=
NM_001408.3:c.5217G>C MANE Select NP_001399.1:p.Leu1739=