Canonical Allele Identifier: CA365907954

Gene: HIVEP2

Linked Data

• MyVariant Identifiers: chr6:g.143093028A>C (hg19) ; chr6:g.142771891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142771891A>C , CM000668.2:g.142771891A>C	GRCh38
NC_000006.11:g.143093028A>C , CM000668.1:g.143093028A>C	GRCh37
NC_000006.10:g.143134721A>C	NCBI36
NG_047004.1:g.178311T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474532.2:c.2848T>G	ENSP00000515553.1:p.Ser950Ala
ENST00000703916.1:c.1-3355T>G	ENSP00000515550.1:n.1-3355T>G
ENST00000703917.1:c.1-3355T>G	ENSP00000515551.1:n.1-3355T>G
ENST00000703918.1:c.2848T>G	ENSP00000515552.1:p.Ser950Ala
ENST00000012134.7:c.2848T>G	ENSP00000012134.2:p.Ser950Ala
ENST00000367603.8:c.2848T>G MANE Select	ENSP00000356575.2:p.Ser950Ala
ENST00000367604.6:c.2848T>G	ENSP00000356576.1:p.Ser950Ala
ENST00000012134.6:c.2848T>G	ENSP00000012134.2:p.Ser950Ala
ENST00000367603.6:c.2848T>G	ENSP00000356575.2:p.Ser950Ala
ENST00000367604.5:c.2848T>G	ENSP00000356576.1:p.Ser950Ala
NM_006734.3:c.2848T>G	NP_006725.3:p.Ser950Ala
XM_017010805.1:c.2848T>G	XP_016866294.1:p.Ser950Ala
XM_024446416.1:c.2848T>G	XP_024302184.1:p.Ser950Ala
XM_024446417.1:c.2848T>G	XP_024302185.1:p.Ser950Ala
XM_024446418.1:c.2848T>G	XP_024302186.1:p.Ser950Ala
XM_024446419.1:c.2848T>G	XP_024302187.1:p.Ser950Ala
NM_006734.4:c.2848T>G MANE Select	NP_006725.3:p.Ser950Ala