Canonical Allele Identifier: CA365907717

Gene: HIVEP2

Linked Data

• gnomAD v4: 6-142771785-C-G
• MyVariant Identifiers: chr6:g.143092922C>G (hg19) ; chr6:g.142771785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142771785C>G , CM000668.2:g.142771785C>G	GRCh38
NC_000006.11:g.143092922C>G , CM000668.1:g.143092922C>G	GRCh37
NC_000006.10:g.143134615C>G	NCBI36
NG_047004.1:g.178417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474532.2:c.2954G>C	ENSP00000515553.1:p.Arg985Thr
ENST00000703916.1:c.1-3249G>C	ENSP00000515550.1:n.1-3249G>C
ENST00000703917.1:c.1-3249G>C	ENSP00000515551.1:n.1-3249G>C
ENST00000703918.1:c.2954G>C	ENSP00000515552.1:p.Arg985Thr
ENST00000012134.7:c.2954G>C	ENSP00000012134.2:p.Arg985Thr
ENST00000367603.8:c.2954G>C MANE Select	ENSP00000356575.2:p.Arg985Thr
ENST00000367604.6:c.2954G>C	ENSP00000356576.1:p.Arg985Thr
ENST00000012134.6:c.2954G>C	ENSP00000012134.2:p.Arg985Thr
ENST00000367603.6:c.2954G>C	ENSP00000356575.2:p.Arg985Thr
ENST00000367604.5:c.2954G>C	ENSP00000356576.1:p.Arg985Thr
NM_006734.3:c.2954G>C	NP_006725.3:p.Arg985Thr
XM_017010805.1:c.2954G>C	XP_016866294.1:p.Arg985Thr
XM_024446416.1:c.2954G>C	XP_024302184.1:p.Arg985Thr
XM_024446417.1:c.2954G>C	XP_024302185.1:p.Arg985Thr
XM_024446418.1:c.2954G>C	XP_024302186.1:p.Arg985Thr
XM_024446419.1:c.2954G>C	XP_024302187.1:p.Arg985Thr
NM_006734.4:c.2954G>C MANE Select	NP_006725.3:p.Arg985Thr