Canonical Allele Identifier: CA391381557
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141584A>G , CM000677.2:g.28141584A>G GRCh38
NC_000015.9:g.28386730A>G , CM000677.1:g.28386730A>G GRCh37
NC_000015.8:g.26060325A>G NCBI36
NG_016355.1:g.185566T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11863T>C MANE Select ENSP00000261609.8:p.Tyr3955His
ENST00000650509.1:c.3574T>C ENSP00000496936.1:p.Tyr1192His
ENST00000261609.11:c.11863T>C ENSP00000261609.7:p.Tyr3955His
NM_004667.5:c.11863T>C NP_004658.3:p.Tyr3955His
XM_005268276.3:c.11749T>C XP_005268333.1:p.Tyr3917His
XM_005268277.3:c.11749T>C XP_005268334.1:p.Tyr3917His
XM_006720726.2:c.11848T>C XP_006720789.1:p.Tyr3950His
XM_006720727.2:c.11605T>C XP_006720790.1:p.Tyr3869His
XM_011522131.1:c.11380T>C XP_011520433.1:p.Tyr3794His
XM_011522132.1:c.9379T>C XP_011520434.1:p.Tyr3127His
XM_011522133.1:c.8608T>C XP_011520435.1:p.Tyr2870His
XM_011522134.1:c.5980T>C XP_011520436.1:p.Tyr1994His
XM_005268276.5:c.11749T>C XP_005268333.1:p.Tyr3917His
XM_006720726.3:c.11848T>C XP_006720789.1:p.Tyr3950His
XM_006720727.3:c.11605T>C XP_006720790.1:p.Tyr3869His
XM_017022695.1:c.11749T>C XP_016878184.1:p.Tyr3917His
XM_017022696.1:c.11749T>C XP_016878185.1:p.Tyr3917His
XM_017022697.1:c.5029T>C XP_016878186.1:p.Tyr1677His
XM_017022698.1:c.5029T>C XP_016878187.1:p.Tyr1677His
NM_004667.6:c.11863T>C MANE Select NP_004658.3:p.Tyr3955His