Canonical Allele Identifier: CA391381561
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141586A>C , CM000677.2:g.28141586A>C GRCh38
NC_000015.9:g.28386732A>C , CM000677.1:g.28386732A>C GRCh37
NC_000015.8:g.26060327A>C NCBI36
NG_016355.1:g.185564T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11861T>G MANE Select ENSP00000261609.8:p.Ile3954Ser
ENST00000650509.1:c.3572T>G ENSP00000496936.1:p.Ile1191Ser
ENST00000261609.11:c.11861T>G ENSP00000261609.7:p.Ile3954Ser
NM_004667.5:c.11861T>G NP_004658.3:p.Ile3954Ser
XM_005268276.3:c.11747T>G XP_005268333.1:p.Ile3916Ser
XM_005268277.3:c.11747T>G XP_005268334.1:p.Ile3916Ser
XM_006720726.2:c.11846T>G XP_006720789.1:p.Ile3949Ser
XM_006720727.2:c.11603T>G XP_006720790.1:p.Ile3868Ser
XM_011522131.1:c.11378T>G XP_011520433.1:p.Ile3793Ser
XM_011522132.1:c.9377T>G XP_011520434.1:p.Ile3126Ser
XM_011522133.1:c.8606T>G XP_011520435.1:p.Ile2869Ser
XM_011522134.1:c.5978T>G XP_011520436.1:p.Ile1993Ser
XM_005268276.5:c.11747T>G XP_005268333.1:p.Ile3916Ser
XM_006720726.3:c.11846T>G XP_006720789.1:p.Ile3949Ser
XM_006720727.3:c.11603T>G XP_006720790.1:p.Ile3868Ser
XM_017022695.1:c.11747T>G XP_016878184.1:p.Ile3916Ser
XM_017022696.1:c.11747T>G XP_016878185.1:p.Ile3916Ser
XM_017022697.1:c.5027T>G XP_016878186.1:p.Ile1676Ser
XM_017022698.1:c.5027T>G XP_016878187.1:p.Ile1676Ser
NM_004667.6:c.11861T>G MANE Select NP_004658.3:p.Ile3954Ser