Canonical Allele Identifier: CA419678482
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109806936A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264314A>C , CM000663.2:g.109264314A>C GRCh38
NC_000001.10:g.109806936A>C , CM000663.1:g.109806936A>C GRCh37
NC_000001.9:g.109608459A>C NCBI36
NG_052669.1:g.19610A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5238A>C MANE Select ENSP00000271332.3:p.Gly1746=
ENST00000271332.3:c.5238A>C ENSP00000271332.3:p.Gly1746=
NM_001408.2:c.5238A>C NP_001399.1:p.Gly1746=
XM_005270580.3:c.5238A>C XP_005270637.1:p.Gly1746=
NM_001408.3:c.5238A>C MANE Select NP_001399.1:p.Gly1746=