Canonical Allele Identifier: CA365941970

Gene: HIVEP2

Linked Data

• ClinVar Variation Id: 453142
• ClinVar RCV Id: RCV000520956
• dbSNP Id: rs1554274447
• gnomAD v4: 6-142753772-T-G
• MyVariant Identifiers: chr6:g.143074909T>G (hg19) ; chr6:g.142753772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.142753772T>G , CM000668.2:g.142753772T>G	GRCh38
NC_000006.11:g.143074909T>G , CM000668.1:g.143074909T>G	GRCh37
NC_000006.10:g.143116602T>G	NCBI36
NG_047004.1:g.196430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703916.1:c.1489A>C	ENSP00000515550.1:p.Ile497Leu
ENST00000703917.1:c.1489A>C	ENSP00000515551.1:p.Ile497Leu
ENST00000703918.1:c.6676A>C	ENSP00000515552.1:p.Ile2226Leu
ENST00000012134.7:c.6676A>C	ENSP00000012134.2:p.Ile2226Leu
ENST00000367603.8:c.6676A>C MANE Select	ENSP00000356575.2:p.Ile2226Leu
ENST00000367604.6:c.6676A>C	ENSP00000356576.1:p.Ile2226Leu
ENST00000012134.6:c.6676A>C	ENSP00000012134.2:p.Ile2226Leu
ENST00000367603.6:c.6676A>C	ENSP00000356575.2:p.Ile2226Leu
ENST00000367604.5:c.6676A>C	ENSP00000356576.1:p.Ile2226Leu
NM_006734.3:c.6676A>C	NP_006725.3:p.Ile2226Leu
XM_017010805.1:c.6676A>C	XP_016866294.1:p.Ile2226Leu
XM_024446416.1:c.6676A>C	XP_024302184.1:p.Ile2226Leu
XM_024446417.1:c.6676A>C	XP_024302185.1:p.Ile2226Leu
XM_024446418.1:c.6676A>C	XP_024302186.1:p.Ile2226Leu
XM_024446419.1:c.6676A>C	XP_024302187.1:p.Ile2226Leu
NM_006734.4:c.6676A>C MANE Select	NP_006725.3:p.Ile2226Leu