Canonical Allele Identifier: CA489234710
Gene: HERC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28386647A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141501A>T , CM000677.2:g.28141501A>T GRCh38
NC_000015.9:g.28386647A>T , CM000677.1:g.28386647A>T GRCh37
NC_000015.8:g.26060242A>T NCBI36
NG_016355.1:g.185649T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11946T>A MANE Select ENSP00000261609.8:p.Leu3982=
ENST00000650509.1:c.3657T>A ENSP00000496936.1:p.Leu1219=
ENST00000261609.11:c.11946T>A ENSP00000261609.7:p.Leu3982=
NM_004667.5:c.11946T>A NP_004658.3:p.Leu3982=
XM_005268276.3:c.11832T>A XP_005268333.1:p.Leu3944=
XM_005268277.3:c.11832T>A XP_005268334.1:p.Leu3944=
XM_006720726.2:c.11931T>A XP_006720789.1:p.Leu3977=
XM_006720727.2:c.11688T>A XP_006720790.1:p.Leu3896=
XM_011522131.1:c.11463T>A XP_011520433.1:p.Leu3821=
XM_011522132.1:c.9462T>A XP_011520434.1:p.Leu3154=
XM_011522133.1:c.8691T>A XP_011520435.1:p.Leu2897=
XM_011522134.1:c.6063T>A XP_011520436.1:p.Leu2021=
XM_005268276.5:c.11832T>A XP_005268333.1:p.Leu3944=
XM_006720726.3:c.11931T>A XP_006720789.1:p.Leu3977=
XM_006720727.3:c.11688T>A XP_006720790.1:p.Leu3896=
XM_017022695.1:c.11832T>A XP_016878184.1:p.Leu3944=
XM_017022696.1:c.11832T>A XP_016878185.1:p.Leu3944=
XM_017022697.1:c.5112T>A XP_016878186.1:p.Leu1704=
XM_017022698.1:c.5112T>A XP_016878187.1:p.Leu1704=
NM_004667.6:c.11946T>A MANE Select NP_004658.3:p.Leu3982=