Canonical Allele Identifier: CA365888263

Gene: HIVEP2

Linked Data

• ClinVar Variation Id: 523775
• ClinVar RCV Id: RCV000627217 ; RCV000852329 ; RCV001265390
• dbSNP Id: rs1554275163
• MyVariant Identifiers: chr6:g.143081490G>A (hg19) ; chr6:g.142760353G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142760353G>A , CM000668.2:g.142760353G>A	GRCh38
NC_000006.11:g.143081490G>A , CM000668.1:g.143081490G>A	GRCh37
NC_000006.10:g.143123183G>A	NCBI36
NG_047004.1:g.189849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703916.1:c.748C>T	ENSP00000515550.1:p.Arg250Ter
ENST00000703917.1:c.748C>T	ENSP00000515551.1:p.Arg250Ter
ENST00000703918.1:c.5935C>T	ENSP00000515552.1:p.Arg1979Ter
ENST00000012134.7:c.5935C>T	ENSP00000012134.2:p.Arg1979Ter
ENST00000367603.8:c.5935C>T MANE Select	ENSP00000356575.2:p.Arg1979Ter
ENST00000367604.6:c.5935C>T	ENSP00000356576.1:p.Arg1979Ter
ENST00000012134.6:c.5935C>T	ENSP00000012134.2:p.Arg1979Ter
ENST00000367603.6:c.5935C>T	ENSP00000356575.2:p.Arg1979Ter
ENST00000367604.5:c.5935C>T	ENSP00000356576.1:p.Arg1979Ter
NM_006734.3:c.5935C>T	NP_006725.3:p.Arg1979Ter
XM_017010805.1:c.5935C>T	XP_016866294.1:p.Arg1979Ter
XM_024446416.1:c.5935C>T	XP_024302184.1:p.Arg1979Ter
XM_024446417.1:c.5935C>T	XP_024302185.1:p.Arg1979Ter
XM_024446418.1:c.5935C>T	XP_024302186.1:p.Arg1979Ter
XM_024446419.1:c.5935C>T	XP_024302187.1:p.Arg1979Ter
NM_006734.4:c.5935C>T MANE Select	NP_006725.3:p.Arg1979Ter