Canonical Allele Identifier: CA915944439

Gene: HIVEP2

Linked Data

• ClinVar Variation Id: 625161
• ClinVar RCV Id: RCV000852369 ; RCV001063953
• dbSNP Id: rs1582843150

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142771785_142771786del , CM000668.2:g.142771785_142771786del	GRCh38
NC_000006.11:g.143092922_143092923del , CM000668.1:g.143092922_143092923del	GRCh37
NC_000006.10:g.143134615_143134616del	NCBI36
NG_047004.1:g.178419_178420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474532.2:c.2956_2957del	ENSP00000515553.1:p.Glu986ArgfsTer4
ENST00000703916.1:c.1-3247_1-3246del	ENSP00000515550.1:n.1-3247_1-3246del
ENST00000703917.1:c.1-3247_1-3246del	ENSP00000515551.1:n.1-3247_1-3246del
ENST00000703918.1:c.2956_2957del	ENSP00000515552.1:p.Glu986ArgfsTer4
ENST00000012134.7:c.2956_2957del	ENSP00000012134.2:p.Glu986ArgfsTer4
ENST00000367603.8:c.2956_2957del MANE Select	ENSP00000356575.2:p.Glu986ArgfsTer4
ENST00000367604.6:c.2956_2957del	ENSP00000356576.1:p.Glu986ArgfsTer4
ENST00000012134.6:c.2956_2957del	ENSP00000012134.2:p.Glu986ArgfsTer4
ENST00000367603.6:c.2956_2957del	ENSP00000356575.2:p.Glu986ArgfsTer4
ENST00000367604.5:c.2956_2957del	ENSP00000356576.1:p.Glu986ArgfsTer4
NM_006734.3:c.2956_2957del	NP_006725.3:p.Glu986ArgfsTer4
XM_017010805.1:c.2956_2957del	XP_016866294.1:p.Glu986ArgfsTer4
XM_024446416.1:c.2956_2957del	XP_024302184.1:p.Glu986ArgfsTer4
XM_024446417.1:c.2956_2957del	XP_024302185.1:p.Glu986ArgfsTer4
XM_024446418.1:c.2956_2957del	XP_024302186.1:p.Glu986ArgfsTer4
XM_024446419.1:c.2956_2957del	XP_024302187.1:p.Glu986ArgfsTer4
NM_006734.4:c.2956_2957del MANE Select	NP_006725.3:p.Glu986ArgfsTer4