Canonical Allele Identifier: CA4027910

Gene: HIVEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142768403C>T , CM000668.2:g.142768403C>T	GRCh38
NC_000006.11:g.143089540C>T , CM000668.1:g.143089540C>T	GRCh37
NC_000006.10:g.143131233C>T	NCBI36
NG_047004.1:g.181799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703916.1:c.134G>A	ENSP00000515550.1:p.Arg45Gln
ENST00000703917.1:c.134G>A	ENSP00000515551.1:p.Arg45Gln
ENST00000703918.1:c.5321G>A	ENSP00000515552.1:p.Arg1774Gln
ENST00000012134.7:c.5321G>A	ENSP00000012134.2:p.Arg1774Gln
ENST00000367603.8:c.5321G>A MANE Select	ENSP00000356575.2:p.Arg1774Gln
ENST00000367604.6:c.5321G>A	ENSP00000356576.1:p.Arg1774Gln
ENST00000012134.6:c.5321G>A	ENSP00000012134.2:p.Arg1774Gln
ENST00000367603.6:c.5321G>A	ENSP00000356575.2:p.Arg1774Gln
ENST00000367604.5:c.5321G>A	ENSP00000356576.1:p.Arg1774Gln
NM_006734.3:c.5321G>A	NP_006725.3:p.Arg1774Gln
XM_017010805.1:c.5321G>A	XP_016866294.1:p.Arg1774Gln
XM_024446416.1:c.5321G>A	XP_024302184.1:p.Arg1774Gln
XM_024446417.1:c.5321G>A	XP_024302185.1:p.Arg1774Gln
XM_024446418.1:c.5321G>A	XP_024302186.1:p.Arg1774Gln
XM_024446419.1:c.5321G>A	XP_024302187.1:p.Arg1774Gln
NM_006734.4:c.5321G>A MANE Select	NP_006725.3:p.Arg1774Gln