Canonical Allele Identifier: CA391381287
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141518T>C , CM000677.2:g.28141518T>C GRCh38
NC_000015.9:g.28386664T>C , CM000677.1:g.28386664T>C GRCh37
NC_000015.8:g.26060259T>C NCBI36
NG_016355.1:g.185632A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11929A>G MANE Select ENSP00000261609.8:p.Thr3977Ala
ENST00000650509.1:c.3640A>G ENSP00000496936.1:p.Thr1214Ala
ENST00000261609.11:c.11929A>G ENSP00000261609.7:p.Thr3977Ala
NM_004667.5:c.11929A>G NP_004658.3:p.Thr3977Ala
XM_005268276.3:c.11815A>G XP_005268333.1:p.Thr3939Ala
XM_005268277.3:c.11815A>G XP_005268334.1:p.Thr3939Ala
XM_006720726.2:c.11914A>G XP_006720789.1:p.Thr3972Ala
XM_006720727.2:c.11671A>G XP_006720790.1:p.Thr3891Ala
XM_011522131.1:c.11446A>G XP_011520433.1:p.Thr3816Ala
XM_011522132.1:c.9445A>G XP_011520434.1:p.Thr3149Ala
XM_011522133.1:c.8674A>G XP_011520435.1:p.Thr2892Ala
XM_011522134.1:c.6046A>G XP_011520436.1:p.Thr2016Ala
XM_005268276.5:c.11815A>G XP_005268333.1:p.Thr3939Ala
XM_006720726.3:c.11914A>G XP_006720789.1:p.Thr3972Ala
XM_006720727.3:c.11671A>G XP_006720790.1:p.Thr3891Ala
XM_017022695.1:c.11815A>G XP_016878184.1:p.Thr3939Ala
XM_017022696.1:c.11815A>G XP_016878185.1:p.Thr3939Ala
XM_017022697.1:c.5095A>G XP_016878186.1:p.Thr1699Ala
XM_017022698.1:c.5095A>G XP_016878187.1:p.Thr1699Ala
NM_004667.6:c.11929A>G MANE Select NP_004658.3:p.Thr3977Ala