Canonical Allele Identifier: CA489234651
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386596A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141450A>G , CM000677.2:g.28141450A>G GRCh38
NC_000015.9:g.28386596A>G , CM000677.1:g.28386596A>G GRCh37
NC_000015.8:g.26060191A>G NCBI36
NG_016355.1:g.185700T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11997T>C MANE Select ENSP00000261609.8:p.Ala3999=
ENST00000650509.1:c.3708T>C ENSP00000496936.1:p.Ala1236=
ENST00000261609.11:c.11997T>C ENSP00000261609.7:p.Ala3999=
NM_004667.5:c.11997T>C NP_004658.3:p.Ala3999=
XM_005268276.3:c.11883T>C XP_005268333.1:p.Ala3961=
XM_005268277.3:c.11883T>C XP_005268334.1:p.Ala3961=
XM_006720726.2:c.11982T>C XP_006720789.1:p.Ala3994=
XM_006720727.2:c.11739T>C XP_006720790.1:p.Ala3913=
XM_011522131.1:c.11514T>C XP_011520433.1:p.Ala3838=
XM_011522132.1:c.9513T>C XP_011520434.1:p.Ala3171=
XM_011522133.1:c.8742T>C XP_011520435.1:p.Ala2914=
XM_011522134.1:c.6114T>C XP_011520436.1:p.Ala2038=
XM_005268276.5:c.11883T>C XP_005268333.1:p.Ala3961=
XM_006720726.3:c.11982T>C XP_006720789.1:p.Ala3994=
XM_006720727.3:c.11739T>C XP_006720790.1:p.Ala3913=
XM_017022695.1:c.11883T>C XP_016878184.1:p.Ala3961=
XM_017022696.1:c.11883T>C XP_016878185.1:p.Ala3961=
XM_017022697.1:c.5163T>C XP_016878186.1:p.Ala1721=
XM_017022698.1:c.5163T>C XP_016878187.1:p.Ala1721=
NM_004667.6:c.11997T>C MANE Select NP_004658.3:p.Ala3999=