Canonical Allele Identifier: CA341501832
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109806938T>A (hg19) chr1:g.109264316T>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5240T>A MANE Select ENSP00000271332.3:p.Ile1747Lys
ENST00000271332.3:c.5240T>A ENSP00000271332.3:p.Ile1747Lys
NM_001408.2:c.5240T>A NP_001399.1:p.Ile1747Lys
XM_005270580.3:c.5240T>A XP_005270637.1:p.Ile1747Lys
NM_001408.3:c.5240T>A MANE Select NP_001399.1:p.Ile1747Lys
Search 100 bp 5'
Search 100 bp 3'