Canonical Allele Identifier: CA489235064
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386954T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141808T>C , CM000677.2:g.28141808T>C GRCh38
NC_000015.9:g.28386954T>C , CM000677.1:g.28386954T>C GRCh37
NC_000015.8:g.26060549T>C NCBI36
NG_016355.1:g.185342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11739A>G MANE Select ENSP00000261609.8:p.Glu3913=
ENST00000650509.1:c.3450A>G ENSP00000496936.1:p.Glu1150=
ENST00000261609.11:c.11739A>G ENSP00000261609.7:p.Glu3913=
ENST00000564519.1:n.254A>G
NM_004667.5:c.11739A>G NP_004658.3:p.Glu3913=
XM_005268276.3:c.11625A>G XP_005268333.1:p.Glu3875=
XM_005268277.3:c.11625A>G XP_005268334.1:p.Glu3875=
XM_006720726.2:c.11724A>G XP_006720789.1:p.Glu3908=
XM_006720727.2:c.11481A>G XP_006720790.1:p.Glu3827=
XM_011522131.1:c.11256A>G XP_011520433.1:p.Glu3752=
XM_011522132.1:c.9255A>G XP_011520434.1:p.Glu3085=
XM_011522133.1:c.8484A>G XP_011520435.1:p.Glu2828=
XM_011522134.1:c.5856A>G XP_011520436.1:p.Glu1952=
XM_005268276.5:c.11625A>G XP_005268333.1:p.Glu3875=
XM_006720726.3:c.11724A>G XP_006720789.1:p.Glu3908=
XM_006720727.3:c.11481A>G XP_006720790.1:p.Glu3827=
XM_017022695.1:c.11625A>G XP_016878184.1:p.Glu3875=
XM_017022696.1:c.11625A>G XP_016878185.1:p.Glu3875=
XM_017022697.1:c.4905A>G XP_016878186.1:p.Glu1635=
XM_017022698.1:c.4905A>G XP_016878187.1:p.Glu1635=
NM_004667.6:c.11739A>G MANE Select NP_004658.3:p.Glu3913=