Canonical Allele Identifier: CA341502022
Gene: CELSR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264497A>T , CM000663.2:g.109264497A>T GRCh38
NC_000001.10:g.109807119A>T , CM000663.1:g.109807119A>T GRCh37
NC_000001.9:g.109608642A>T NCBI36
NG_052669.1:g.19793A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5333A>T MANE Select ENSP00000271332.3:p.Asp1778Val
ENST00000271332.3:c.5333A>T ENSP00000271332.3:p.Asp1778Val
NM_001408.2:c.5333A>T NP_001399.1:p.Asp1778Val
XM_005270580.3:c.5333A>T XP_005270637.1:p.Asp1778Val
NM_001408.3:c.5333A>T MANE Select NP_001399.1:p.Asp1778Val