Canonical Allele Identifier: CA4027793
Gene: HIVEP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142760431C>T , CM000668.2:g.142760431C>T GRCh38
NC_000006.11:g.143081568C>T , CM000668.1:g.143081568C>T GRCh37
NC_000006.10:g.143123261C>T NCBI36
NG_047004.1:g.189771G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703916.1:c.670G>A ENSP00000515550.1:p.Val224Ile
ENST00000703917.1:c.670G>A ENSP00000515551.1:p.Val224Ile
ENST00000703918.1:c.5857G>A ENSP00000515552.1:p.Val1953Ile
ENST00000012134.7:c.5857G>A ENSP00000012134.2:p.Val1953Ile
ENST00000367603.8:c.5857G>A MANE Select ENSP00000356575.2:p.Val1953Ile
ENST00000367604.6:c.5857G>A ENSP00000356576.1:p.Val1953Ile
ENST00000012134.6:c.5857G>A ENSP00000012134.2:p.Val1953Ile
ENST00000367603.6:c.5857G>A ENSP00000356575.2:p.Val1953Ile
ENST00000367604.5:c.5857G>A ENSP00000356576.1:p.Val1953Ile
NM_006734.3:c.5857G>A NP_006725.3:p.Val1953Ile
XM_017010805.1:c.5857G>A XP_016866294.1:p.Val1953Ile
XM_024446416.1:c.5857G>A XP_024302184.1:p.Val1953Ile
XM_024446417.1:c.5857G>A XP_024302185.1:p.Val1953Ile
XM_024446418.1:c.5857G>A XP_024302186.1:p.Val1953Ile
XM_024446419.1:c.5857G>A XP_024302187.1:p.Val1953Ile
NM_006734.4:c.5857G>A MANE Select NP_006725.3:p.Val1953Ile