Canonical Allele Identifier: CA391381164
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1891218881

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141494G>C , CM000677.2:g.28141494G>C GRCh38
NC_000015.9:g.28386640G>C , CM000677.1:g.28386640G>C GRCh37
NC_000015.8:g.26060235G>C NCBI36
NG_016355.1:g.185656C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11953C>G MANE Select ENSP00000261609.8:p.Leu3985Val
ENST00000650509.1:c.3664C>G ENSP00000496936.1:p.Leu1222Val
ENST00000261609.11:c.11953C>G ENSP00000261609.7:p.Leu3985Val
NM_004667.5:c.11953C>G NP_004658.3:p.Leu3985Val
XM_005268276.3:c.11839C>G XP_005268333.1:p.Leu3947Val
XM_005268277.3:c.11839C>G XP_005268334.1:p.Leu3947Val
XM_006720726.2:c.11938C>G XP_006720789.1:p.Leu3980Val
XM_006720727.2:c.11695C>G XP_006720790.1:p.Leu3899Val
XM_011522131.1:c.11470C>G XP_011520433.1:p.Leu3824Val
XM_011522132.1:c.9469C>G XP_011520434.1:p.Leu3157Val
XM_011522133.1:c.8698C>G XP_011520435.1:p.Leu2900Val
XM_011522134.1:c.6070C>G XP_011520436.1:p.Leu2024Val
XM_005268276.5:c.11839C>G XP_005268333.1:p.Leu3947Val
XM_006720726.3:c.11938C>G XP_006720789.1:p.Leu3980Val
XM_006720727.3:c.11695C>G XP_006720790.1:p.Leu3899Val
XM_017022695.1:c.11839C>G XP_016878184.1:p.Leu3947Val
XM_017022696.1:c.11839C>G XP_016878185.1:p.Leu3947Val
XM_017022697.1:c.5119C>G XP_016878186.1:p.Leu1707Val
XM_017022698.1:c.5119C>G XP_016878187.1:p.Leu1707Val
NM_004667.6:c.11953C>G MANE Select NP_004658.3:p.Leu3985Val