Canonical Allele Identifier: CA4027553
Gene: HIVEP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142753232G>A , CM000668.2:g.142753232G>A GRCh38
NC_000006.11:g.143074369G>A , CM000668.1:g.143074369G>A GRCh37
NC_000006.10:g.143116062G>A NCBI36
NG_047004.1:g.196970C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703916.1:c.2029C>T ENSP00000515550.1:p.His677Tyr
ENST00000703917.1:c.2029C>T ENSP00000515551.1:p.His677Tyr
ENST00000703918.1:c.7216C>T ENSP00000515552.1:p.His2406Tyr
ENST00000012134.7:c.7216C>T ENSP00000012134.2:p.His2406Tyr
ENST00000367603.8:c.7216C>T MANE Select ENSP00000356575.2:p.His2406Tyr
ENST00000367604.6:c.7216C>T ENSP00000356576.1:p.His2406Tyr
ENST00000012134.6:c.7216C>T ENSP00000012134.2:p.His2406Tyr
ENST00000367603.6:c.7216C>T ENSP00000356575.2:p.His2406Tyr
ENST00000367604.5:c.7216C>T ENSP00000356576.1:p.His2406Tyr
NM_006734.3:c.7216C>T NP_006725.3:p.His2406Tyr
XM_017010805.1:c.7216C>T XP_016866294.1:p.His2406Tyr
XM_024446416.1:c.7216C>T XP_024302184.1:p.His2406Tyr
XM_024446417.1:c.7216C>T XP_024302185.1:p.His2406Tyr
XM_024446418.1:c.7216C>T XP_024302186.1:p.His2406Tyr
XM_024446419.1:c.7216C>T XP_024302187.1:p.His2406Tyr
NM_006734.4:c.7216C>T MANE Select NP_006725.3:p.His2406Tyr