Canonical Allele Identifier: CA560440
Gene: ESPN HGNC NCBI

Linked Data

ClinVar Variation Id: 3090487
ClinVar RCV Id: RCV004380906
dbSNP Id: rs199641142
gnomAD v2: 1-6512095-G-A
gnomAD v3: 1-6452035-G-A
gnomAD v4: 1-6452035-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6452035G>A , CM000663.2:g.6452035G>A GRCh38
NC_000001.10:g.6512095G>A , CM000663.1:g.6512095G>A GRCh37
NC_000001.9:g.6434682G>A NCBI36
NG_015866.1:g.32248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434576.2:c.294G>A
ENST00000461727.6:c.566G>A ENSP00000465308.1:p.Arg189His
ENST00000475228.6:c.332G>A ENSP00000488721.2:p.Arg111His
ENST00000477679.2:c.319G>A
ENST00000636330.1:c.2264G>A ENSP00000490186.1:p.Arg755His
ENST00000636644.1:c.389G>A ENSP00000490230.1:p.Arg130His
ENST00000645284.1:c.2264G>A MANE Select ENSP00000496593.1:p.Arg755His
ENST00000377828.5:c.2264G>A ENSP00000367059.1:p.Arg755His
ENST00000416731.5:c.566G>A ENSP00000399239.2:p.Arg189His
ENST00000434576.1:c.294G>A
ENST00000461727.5:c.566G>A ENSP00000465308.1:p.Arg189His
ENST00000475228.5:c.329G>A ENSP00000488721.1:p.Arg110His
ENST00000477679.1:n.319G>A
ENST00000633239.1:c.413G>A ENSP00000488071.1:p.Arg138His
NM_031475.2:c.2264G>A NP_113663.2:p.Arg755His
XM_005263501.2:c.2201G>A XP_005263558.1:p.Arg734His
XM_011542231.1:c.2201G>A XP_011540533.1:p.Arg734His
XM_011542232.1:c.2174G>A XP_011540534.1:p.Arg725His
XM_011542233.1:c.1805G>A XP_011540535.1:p.Arg602His
XM_011542234.1:c.1142G>A XP_011540536.1:p.Arg381His
XM_011542235.1:c.2174G>A XP_011540537.1:p.Arg725His
XM_011542236.1:c.389G>A XP_011540538.1:p.Arg130His
NM_031475.3:c.2264G>A MANE Select NP_113663.2:p.Arg755His
XM_011542233.2:c.1805G>A XP_011540535.1:p.Arg602His
XM_011542236.2:c.389G>A XP_011540538.1:p.Arg130His
XM_017002433.1:c.2201G>A XP_016857922.1:p.Arg734His
XM_024450116.1:c.2174G>A XP_024305884.1:p.Arg725His
NM_001367473.1:c.2174G>A NP_001354402.1:p.Arg725His
NM_001367474.1:c.2201G>A NP_001354403.1:p.Arg734His