Canonical Allele Identifier: CA391381331
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141531T>A , CM000677.2:g.28141531T>A GRCh38
NC_000015.9:g.28386677T>A , CM000677.1:g.28386677T>A GRCh37
NC_000015.8:g.26060272T>A NCBI36
NG_016355.1:g.185619A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11916A>T MANE Select ENSP00000261609.8:p.Lys3972Asn
ENST00000650509.1:c.3627A>T ENSP00000496936.1:p.Lys1209Asn
ENST00000261609.11:c.11916A>T ENSP00000261609.7:p.Lys3972Asn
NM_004667.5:c.11916A>T NP_004658.3:p.Lys3972Asn
XM_005268276.3:c.11802A>T XP_005268333.1:p.Lys3934Asn
XM_005268277.3:c.11802A>T XP_005268334.1:p.Lys3934Asn
XM_006720726.2:c.11901A>T XP_006720789.1:p.Lys3967Asn
XM_006720727.2:c.11658A>T XP_006720790.1:p.Lys3886Asn
XM_011522131.1:c.11433A>T XP_011520433.1:p.Lys3811Asn
XM_011522132.1:c.9432A>T XP_011520434.1:p.Lys3144Asn
XM_011522133.1:c.8661A>T XP_011520435.1:p.Lys2887Asn
XM_011522134.1:c.6033A>T XP_011520436.1:p.Lys2011Asn
XM_005268276.5:c.11802A>T XP_005268333.1:p.Lys3934Asn
XM_006720726.3:c.11901A>T XP_006720789.1:p.Lys3967Asn
XM_006720727.3:c.11658A>T XP_006720790.1:p.Lys3886Asn
XM_017022695.1:c.11802A>T XP_016878184.1:p.Lys3934Asn
XM_017022696.1:c.11802A>T XP_016878185.1:p.Lys3934Asn
XM_017022697.1:c.5082A>T XP_016878186.1:p.Lys1694Asn
XM_017022698.1:c.5082A>T XP_016878187.1:p.Lys1694Asn
NM_004667.6:c.11916A>T MANE Select NP_004658.3:p.Lys3972Asn