Canonical Allele Identifier: CA489235052
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1891253609
MyVariant Identifiers: chr15:g.28386942A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141796A>G , CM000677.2:g.28141796A>G GRCh38
NC_000015.9:g.28386942A>G , CM000677.1:g.28386942A>G GRCh37
NC_000015.8:g.26060537A>G NCBI36
NG_016355.1:g.185354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11751T>C MANE Select ENSP00000261609.8:p.Val3917=
ENST00000650509.1:c.3462T>C ENSP00000496936.1:p.Val1154=
ENST00000261609.11:c.11751T>C ENSP00000261609.7:p.Val3917=
ENST00000564519.1:n.266T>C
NM_004667.5:c.11751T>C NP_004658.3:p.Val3917=
XM_005268276.3:c.11637T>C XP_005268333.1:p.Val3879=
XM_005268277.3:c.11637T>C XP_005268334.1:p.Val3879=
XM_006720726.2:c.11736T>C XP_006720789.1:p.Val3912=
XM_006720727.2:c.11493T>C XP_006720790.1:p.Val3831=
XM_011522131.1:c.11268T>C XP_011520433.1:p.Val3756=
XM_011522132.1:c.9267T>C XP_011520434.1:p.Val3089=
XM_011522133.1:c.8496T>C XP_011520435.1:p.Val2832=
XM_011522134.1:c.5868T>C XP_011520436.1:p.Val1956=
XM_005268276.5:c.11637T>C XP_005268333.1:p.Val3879=
XM_006720726.3:c.11736T>C XP_006720789.1:p.Val3912=
XM_006720727.3:c.11493T>C XP_006720790.1:p.Val3831=
XM_017022695.1:c.11637T>C XP_016878184.1:p.Val3879=
XM_017022696.1:c.11637T>C XP_016878185.1:p.Val3879=
XM_017022697.1:c.4917T>C XP_016878186.1:p.Val1639=
XM_017022698.1:c.4917T>C XP_016878187.1:p.Val1639=
NM_004667.6:c.11751T>C MANE Select NP_004658.3:p.Val3917=