Canonical Allele Identifier: CA2166473148
Gene: HERC2 HGNC NCBI

Linked Data

dbSNP Id: rs1887655670

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28111647C>T , CM000677.2:g.28111647C>T GRCh38
NC_000015.9:g.28356793C>T , CM000677.1:g.28356793C>T GRCh37
NC_000015.8:g.26030388C>T NCBI36
NG_016355.1:g.215503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.*116G>A MANE Select ENSP00000261609.8:n.*116G>A
ENST00000650509.1:c.6100G>A ENSP00000496936.1:n.6100G>A
ENST00000261609.11:c.*116G>A ENSP00000261609.7:n.*116G>A
ENST00000566635.5:n.1746G>A
NM_004667.5:c.*116G>A NP_004658.3:n.*116G>A
XM_005268276.3:c.*116G>A XP_005268333.1:n.*116G>A
XM_005268277.3:c.*116G>A XP_005268334.1:n.*116G>A
XM_006720726.2:c.*116G>A XP_006720789.1:n.*116G>A
XM_006720727.2:c.*116G>A XP_006720790.1:n.*116G>A
XM_011522131.1:c.*116G>A XP_011520433.1:n.*116G>A
XM_011522132.1:c.*116G>A XP_011520434.1:n.*116G>A
XM_011522133.1:c.*116G>A XP_011520435.1:n.*116G>A
XM_011522134.1:c.*116G>A XP_011520436.1:n.*116G>A
XM_005268276.5:c.*116G>A XP_005268333.1:n.*116G>A
XM_006720726.3:c.*116G>A XP_006720789.1:n.*116G>A
XM_006720727.3:c.*116G>A XP_006720790.1:n.*116G>A
XM_017022695.1:c.*116G>A XP_016878184.1:n.*116G>A
XM_017022696.1:c.*116G>A XP_016878185.1:n.*116G>A
XM_017022697.1:c.*116G>A XP_016878186.1:n.*116G>A
XM_017022698.1:c.*116G>A XP_016878187.1:n.*116G>A
NM_004667.6:c.*116G>A MANE Select NP_004658.3:n.*116G>A