Canonical Allele Identifier: CA4027563
Gene: HIVEP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142753343T>C , CM000668.2:g.142753343T>C GRCh38
NC_000006.11:g.143074480T>C , CM000668.1:g.143074480T>C GRCh37
NC_000006.10:g.143116173T>C NCBI36
NG_047004.1:g.196859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703916.1:c.1918A>G ENSP00000515550.1:p.Ile640Val
ENST00000703917.1:c.1918A>G ENSP00000515551.1:p.Ile640Val
ENST00000703918.1:c.7105A>G ENSP00000515552.1:p.Ile2369Val
ENST00000012134.7:c.7105A>G ENSP00000012134.2:p.Ile2369Val
ENST00000367603.8:c.7105A>G MANE Select ENSP00000356575.2:p.Ile2369Val
ENST00000367604.6:c.7105A>G ENSP00000356576.1:p.Ile2369Val
ENST00000012134.6:c.7105A>G ENSP00000012134.2:p.Ile2369Val
ENST00000367603.6:c.7105A>G ENSP00000356575.2:p.Ile2369Val
ENST00000367604.5:c.7105A>G ENSP00000356576.1:p.Ile2369Val
NM_006734.3:c.7105A>G NP_006725.3:p.Ile2369Val
XM_017010805.1:c.7105A>G XP_016866294.1:p.Ile2369Val
XM_024446416.1:c.7105A>G XP_024302184.1:p.Ile2369Val
XM_024446417.1:c.7105A>G XP_024302185.1:p.Ile2369Val
XM_024446418.1:c.7105A>G XP_024302186.1:p.Ile2369Val
XM_024446419.1:c.7105A>G XP_024302187.1:p.Ile2369Val
NM_006734.4:c.7105A>G MANE Select NP_006725.3:p.Ile2369Val