Canonical Allele Identifier: CA4028671
Community Standard Title: NM_006734.4(HIVEP2):c.928G>A (p.Gly310Ser)
Gene: HIVEP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.142773811C>T , CM000668.2:g.142773811C>T GRCh38
NC_000006.11:g.143094948C>T , CM000668.1:g.143094948C>T GRCh37
NC_000006.10:g.143136641C>T NCBI36
NG_047004.1:g.176391G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006734.4:c.928G>A MANE Select NP_006725.3:p.Gly310Ser
ENST00000367603.8:c.928G>A MANE Select ENSP00000356575.2:p.Gly310Ser
NM_006734.3:c.928G>A NP_006725.3:p.Gly310Ser
ENST00000012134.6:c.928G>A ENSP00000012134.2:p.Gly310Ser
ENST00000012134.7:c.928G>A ENSP00000012134.2:p.Gly310Ser
ENST00000367603.6:c.928G>A ENSP00000356575.2:p.Gly310Ser
ENST00000367604.5:c.928G>A ENSP00000356576.1:p.Gly310Ser
ENST00000367604.6:c.928G>A ENSP00000356576.1:p.Gly310Ser
ENST00000474532.2:c.928G>A ENSP00000515553.1:p.Gly310Ser
ENST00000703916.1:c.1-5275G>A ENSP00000515550.1:n.1-5275G>A
ENST00000703917.1:c.-1+2336G>A ENSP00000515551.1:n.-1+2336G>A
ENST00000703918.1:c.928G>A ENSP00000515552.1:p.Gly310Ser
ENST00000703919.1:c.928G>A ENSP00000515554.1:p.Gly310Ser
ENST00000703920.1:c.928G>A ENSP00000515555.1:p.Gly310Ser
XM_017010805.1:c.928G>A XP_016866294.1:p.Gly310Ser
XM_024446416.1:c.928G>A XP_024302184.1:p.Gly310Ser
XM_024446417.1:c.928G>A XP_024302185.1:p.Gly310Ser
XM_024446418.1:c.928G>A XP_024302186.1:p.Gly310Ser
XM_024446419.1:c.928G>A XP_024302187.1:p.Gly310Ser