Canonical Allele Identifier: CA7440424
Gene: HERC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1224285
ClinVar RCV Id: RCV001594800
dbSNP Id: rs11636232

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141480C>T , CM000677.2:g.28141480C>T GRCh38
NC_000015.9:g.28386626C>T , CM000677.1:g.28386626C>T GRCh37
NC_000015.8:g.26060221C>T NCBI36
NG_016355.1:g.185670G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11967G>A MANE Select ENSP00000261609.8:p.Gln3989=
ENST00000650509.1:n.3678G>A ENSP00000496936.1:p.Gln1226=
ENST00000261609.11:c.11967G>A ENSP00000261609.7:p.Gln3989=
NM_004667.5:c.11967G>A NP_004658.3:p.Gln3989=
XM_005268276.3:c.11853G>A XP_005268333.1:p.Gln3951=
XM_005268277.3:c.11853G>A XP_005268334.1:p.Gln3951=
XM_006720726.2:c.11952G>A XP_006720789.1:p.Gln3984=
XM_006720727.2:c.11709G>A XP_006720790.1:p.Gln3903=
XM_011522131.1:c.11484G>A XP_011520433.1:p.Gln3828=
XM_011522132.1:c.9483G>A XP_011520434.1:p.Gln3161=
XM_011522133.1:c.8712G>A XP_011520435.1:p.Gln2904=
XM_011522134.1:c.6084G>A XP_011520436.1:p.Gln2028=
XM_005268276.5:c.11853G>A XP_005268333.1:p.Gln3951=
XM_006720726.3:c.11952G>A XP_006720789.1:p.Gln3984=
XM_006720727.3:c.11709G>A XP_006720790.1:p.Gln3903=
XM_017022695.1:c.11853G>A XP_016878184.1:p.Gln3951=
XM_017022696.1:c.11853G>A XP_016878185.1:p.Gln3951=
XM_017022697.1:c.5133G>A XP_016878186.1:p.Gln1711=
XM_017022698.1:c.5133G>A XP_016878187.1:p.Gln1711=
NM_004667.6:c.11967G>A MANE Select NP_004658.3:p.Gln3989=