Canonical Allele Identifier: CA391381198
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141502A>C , CM000677.2:g.28141502A>C GRCh38
NC_000015.9:g.28386648A>C , CM000677.1:g.28386648A>C GRCh37
NC_000015.8:g.26060243A>C NCBI36
NG_016355.1:g.185648T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11945T>G MANE Select ENSP00000261609.8:p.Leu3982Arg
ENST00000650509.1:c.3656T>G ENSP00000496936.1:p.Leu1219Arg
ENST00000261609.11:c.11945T>G ENSP00000261609.7:p.Leu3982Arg
NM_004667.5:c.11945T>G NP_004658.3:p.Leu3982Arg
XM_005268276.3:c.11831T>G XP_005268333.1:p.Leu3944Arg
XM_005268277.3:c.11831T>G XP_005268334.1:p.Leu3944Arg
XM_006720726.2:c.11930T>G XP_006720789.1:p.Leu3977Arg
XM_006720727.2:c.11687T>G XP_006720790.1:p.Leu3896Arg
XM_011522131.1:c.11462T>G XP_011520433.1:p.Leu3821Arg
XM_011522132.1:c.9461T>G XP_011520434.1:p.Leu3154Arg
XM_011522133.1:c.8690T>G XP_011520435.1:p.Leu2897Arg
XM_011522134.1:c.6062T>G XP_011520436.1:p.Leu2021Arg
XM_005268276.5:c.11831T>G XP_005268333.1:p.Leu3944Arg
XM_006720726.3:c.11930T>G XP_006720789.1:p.Leu3977Arg
XM_006720727.3:c.11687T>G XP_006720790.1:p.Leu3896Arg
XM_017022695.1:c.11831T>G XP_016878184.1:p.Leu3944Arg
XM_017022696.1:c.11831T>G XP_016878185.1:p.Leu3944Arg
XM_017022697.1:c.5111T>G XP_016878186.1:p.Leu1704Arg
XM_017022698.1:c.5111T>G XP_016878187.1:p.Leu1704Arg
NM_004667.6:c.11945T>G MANE Select NP_004658.3:p.Leu3982Arg