Canonical Allele Identifier: CA341501849
Gene: CELSR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264325C>A , CM000663.2:g.109264325C>A GRCh38
NC_000001.10:g.109806947C>A , CM000663.1:g.109806947C>A GRCh37
NC_000001.9:g.109608470C>A NCBI36
NG_052669.1:g.19621C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5249C>A MANE Select ENSP00000271332.3:p.Pro1750Gln
ENST00000271332.3:c.5249C>A ENSP00000271332.3:p.Pro1750Gln
NM_001408.2:c.5249C>A NP_001399.1:p.Pro1750Gln
XM_005270580.3:c.5249C>A XP_005270637.1:p.Pro1750Gln
NM_001408.3:c.5249C>A MANE Select NP_001399.1:p.Pro1750Gln