Canonical Allele Identifier: CA391381089
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141481T>C , CM000677.2:g.28141481T>C GRCh38
NC_000015.9:g.28386627T>C , CM000677.1:g.28386627T>C GRCh37
NC_000015.8:g.26060222T>C NCBI36
NG_016355.1:g.185669A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11966A>G MANE Select ENSP00000261609.8:p.Gln3989Arg
ENST00000650509.1:c.3677A>G ENSP00000496936.1:p.Gln1226Arg
ENST00000261609.11:c.11966A>G ENSP00000261609.7:p.Gln3989Arg
NM_004667.5:c.11966A>G NP_004658.3:p.Gln3989Arg
XM_005268276.3:c.11852A>G XP_005268333.1:p.Gln3951Arg
XM_005268277.3:c.11852A>G XP_005268334.1:p.Gln3951Arg
XM_006720726.2:c.11951A>G XP_006720789.1:p.Gln3984Arg
XM_006720727.2:c.11708A>G XP_006720790.1:p.Gln3903Arg
XM_011522131.1:c.11483A>G XP_011520433.1:p.Gln3828Arg
XM_011522132.1:c.9482A>G XP_011520434.1:p.Gln3161Arg
XM_011522133.1:c.8711A>G XP_011520435.1:p.Gln2904Arg
XM_011522134.1:c.6083A>G XP_011520436.1:p.Gln2028Arg
XM_005268276.5:c.11852A>G XP_005268333.1:p.Gln3951Arg
XM_006720726.3:c.11951A>G XP_006720789.1:p.Gln3984Arg
XM_006720727.3:c.11708A>G XP_006720790.1:p.Gln3903Arg
XM_017022695.1:c.11852A>G XP_016878184.1:p.Gln3951Arg
XM_017022696.1:c.11852A>G XP_016878185.1:p.Gln3951Arg
XM_017022697.1:c.5132A>G XP_016878186.1:p.Gln1711Arg
XM_017022698.1:c.5132A>G XP_016878187.1:p.Gln1711Arg
NM_004667.6:c.11966A>G MANE Select NP_004658.3:p.Gln3989Arg