Canonical Allele Identifier: CA16618248
Gene: HIVEP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422837
ClinVar RCV Id: RCV000484419 RCV001265253
dbSNP Id: rs1064796034
MyVariant Identifiers: chr6:g.143081525del (hg19) chr6:g.142760388del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142760388del , CM000668.2:g.142760388del GRCh38
NC_000006.11:g.143081525del , CM000668.1:g.143081525del GRCh37
NC_000006.10:g.143123218del NCBI36
NG_047004.1:g.189814del

Transcript Alleles

HGVS Amino-acid change
ENST00000703916.1:c.713del ENSP00000515550.1:p.Ser238CysfsTer2
ENST00000703917.1:c.713del ENSP00000515551.1:p.Ser238CysfsTer2
ENST00000703918.1:c.5900del ENSP00000515552.1:p.Ser1967CysfsTer2
ENST00000012134.7:c.5900del ENSP00000012134.2:p.Ser1967CysfsTer2
ENST00000367603.8:c.5900del MANE Select ENSP00000356575.2:p.Ser1967CysfsTer2
ENST00000367604.6:c.5900del ENSP00000356576.1:p.Ser1967CysfsTer2
ENST00000012134.6:c.5900del ENSP00000012134.2:p.Ser1967CysfsTer2
ENST00000367603.6:c.5900del ENSP00000356575.2:p.Ser1967CysfsTer2
ENST00000367604.5:c.5900del ENSP00000356576.1:p.Ser1967CysfsTer2
NM_006734.3:c.5900del NP_006725.3:p.Ser1967CysfsTer2
XM_017010805.1:c.5900del XP_016866294.1:p.Ser1967CysfsTer2
XM_024446416.1:c.5900del XP_024302184.1:p.Ser1967CysfsTer2
XM_024446417.1:c.5900del XP_024302185.1:p.Ser1967CysfsTer2
XM_024446418.1:c.5900del XP_024302186.1:p.Ser1967CysfsTer2
XM_024446419.1:c.5900del XP_024302187.1:p.Ser1967CysfsTer2
NM_006734.4:c.5900del MANE Select NP_006725.3:p.Ser1967CysfsTer2
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