Canonical Allele Identifier: CA341502043
Gene: CELSR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264506A>G , CM000663.2:g.109264506A>G GRCh38
NC_000001.10:g.109807128A>G , CM000663.1:g.109807128A>G GRCh37
NC_000001.9:g.109608651A>G NCBI36
NG_052669.1:g.19802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5342A>G MANE Select ENSP00000271332.3:p.His1781Arg
ENST00000271332.3:c.5342A>G ENSP00000271332.3:p.His1781Arg
NM_001408.2:c.5342A>G NP_001399.1:p.His1781Arg
XM_005270580.3:c.5342A>G XP_005270637.1:p.His1781Arg
NM_001408.3:c.5342A>G MANE Select NP_001399.1:p.His1781Arg