Canonical Allele Identifier: CA267947489
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs752908306
MyVariant Identifiers: chr15:g.28272372G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28272372G>A , CM000677.2:g.28272372G>A GRCh38
NC_000015.8:g.26191113G>A NCBI36
NG_016355.1:g.54778C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.926C>T MANE Select ENSP00000261609.8:p.Ala309Val
ENST00000261609.11:c.926C>T ENSP00000261609.7:p.Ala309Val
ENST00000563670.1:n.290C>T
ENST00000564734.5:c.*796C>T ENSP00000456237.1:n.*796C>T
NM_004667.5:c.926C>T NP_004658.3:p.Ala309Val
XM_005268276.3:c.812C>T XP_005268333.1:p.Ala271Val
XM_005268277.3:c.812C>T XP_005268334.1:p.Ala271Val
XM_006720726.2:c.926C>T XP_006720789.1:p.Ala309Val
XM_006720727.2:c.668C>T XP_006720790.1:p.Ala223Val
XM_011522131.1:c.443C>T XP_011520433.1:p.Ala148Val
XM_011522132.1:c.-51C>T XP_011520434.1:n.-51C>T
XM_011522133.1:c.322+20516C>T XP_011520435.1:n.322+20516C>T
XM_011522135.1:c.926C>T XP_011520437.1:p.Ala309Val
XM_011522136.1:c.926C>T XP_011520438.1:p.Ala309Val
XM_011522137.1:c.926C>T XP_011520439.1:p.Ala309Val
XR_931930.1:n.1055C>T
XR_931931.1:n.1055C>T
XM_005268276.5:c.812C>T XP_005268333.1:p.Ala271Val
XM_006720726.3:c.926C>T XP_006720789.1:p.Ala309Val
XM_006720727.3:c.668C>T XP_006720790.1:p.Ala223Val
XM_017022695.1:c.812C>T XP_016878184.1:p.Ala271Val
XM_017022696.1:c.812C>T XP_016878185.1:p.Ala271Val
XR_001751410.1:n.1056C>T
XR_931930.2:n.1056C>T
NM_004667.6:c.926C>T MANE Select NP_004658.3:p.Ala309Val