Canonical Allele Identifier: CA341501833
Gene: CELSR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264316T>C , CM000663.2:g.109264316T>C GRCh38
NC_000001.10:g.109806938T>C , CM000663.1:g.109806938T>C GRCh37
NC_000001.9:g.109608461T>C NCBI36
NG_052669.1:g.19612T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5240T>C MANE Select ENSP00000271332.3:p.Ile1747Thr
ENST00000271332.3:c.5240T>C ENSP00000271332.3:p.Ile1747Thr
NM_001408.2:c.5240T>C NP_001399.1:p.Ile1747Thr
XM_005270580.3:c.5240T>C XP_005270637.1:p.Ile1747Thr
NM_001408.3:c.5240T>C MANE Select NP_001399.1:p.Ile1747Thr