Canonical Allele Identifier: CA391381568
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141587T>G , CM000677.2:g.28141587T>G GRCh38
NC_000015.9:g.28386733T>G , CM000677.1:g.28386733T>G GRCh37
NC_000015.8:g.26060328T>G NCBI36
NG_016355.1:g.185563A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11860A>C MANE Select ENSP00000261609.8:p.Ile3954Leu
ENST00000650509.1:c.3571A>C ENSP00000496936.1:p.Ile1191Leu
ENST00000261609.11:c.11860A>C ENSP00000261609.7:p.Ile3954Leu
NM_004667.5:c.11860A>C NP_004658.3:p.Ile3954Leu
XM_005268276.3:c.11746A>C XP_005268333.1:p.Ile3916Leu
XM_005268277.3:c.11746A>C XP_005268334.1:p.Ile3916Leu
XM_006720726.2:c.11845A>C XP_006720789.1:p.Ile3949Leu
XM_006720727.2:c.11602A>C XP_006720790.1:p.Ile3868Leu
XM_011522131.1:c.11377A>C XP_011520433.1:p.Ile3793Leu
XM_011522132.1:c.9376A>C XP_011520434.1:p.Ile3126Leu
XM_011522133.1:c.8605A>C XP_011520435.1:p.Ile2869Leu
XM_011522134.1:c.5977A>C XP_011520436.1:p.Ile1993Leu
XM_005268276.5:c.11746A>C XP_005268333.1:p.Ile3916Leu
XM_006720726.3:c.11845A>C XP_006720789.1:p.Ile3949Leu
XM_006720727.3:c.11602A>C XP_006720790.1:p.Ile3868Leu
XM_017022695.1:c.11746A>C XP_016878184.1:p.Ile3916Leu
XM_017022696.1:c.11746A>C XP_016878185.1:p.Ile3916Leu
XM_017022697.1:c.5026A>C XP_016878186.1:p.Ile1676Leu
XM_017022698.1:c.5026A>C XP_016878187.1:p.Ile1676Leu
NM_004667.6:c.11860A>C MANE Select NP_004658.3:p.Ile3954Leu