Canonical Allele Identifier: CA365907958
Gene: HIVEP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142771892G>T , CM000668.2:g.142771892G>T GRCh38
NC_000006.11:g.143093029G>T , CM000668.1:g.143093029G>T GRCh37
NC_000006.10:g.143134722G>T NCBI36
NG_047004.1:g.178310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474532.2:c.2847C>A ENSP00000515553.1:p.His949Gln
ENST00000703916.1:c.1-3356C>A ENSP00000515550.1:n.1-3356C>A
ENST00000703917.1:c.1-3356C>A ENSP00000515551.1:n.1-3356C>A
ENST00000703918.1:c.2847C>A ENSP00000515552.1:p.His949Gln
ENST00000012134.7:c.2847C>A ENSP00000012134.2:p.His949Gln
ENST00000367603.8:c.2847C>A MANE Select ENSP00000356575.2:p.His949Gln
ENST00000367604.6:c.2847C>A ENSP00000356576.1:p.His949Gln
ENST00000012134.6:c.2847C>A ENSP00000012134.2:p.His949Gln
ENST00000367603.6:c.2847C>A ENSP00000356575.2:p.His949Gln
ENST00000367604.5:c.2847C>A ENSP00000356576.1:p.His949Gln
NM_006734.3:c.2847C>A NP_006725.3:p.His949Gln
XM_017010805.1:c.2847C>A XP_016866294.1:p.His949Gln
XM_024446416.1:c.2847C>A XP_024302184.1:p.His949Gln
XM_024446417.1:c.2847C>A XP_024302185.1:p.His949Gln
XM_024446418.1:c.2847C>A XP_024302186.1:p.His949Gln
XM_024446419.1:c.2847C>A XP_024302187.1:p.His949Gln
NM_006734.4:c.2847C>A MANE Select NP_006725.3:p.His949Gln