Canonical Allele Identifier: CA391382035
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141835T>A , CM000677.2:g.28141835T>A GRCh38
NC_000015.9:g.28386981T>A , CM000677.1:g.28386981T>A GRCh37
NC_000015.8:g.26060576T>A NCBI36
NG_016355.1:g.185315A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11712A>T MANE Select ENSP00000261609.8:p.Lys3904Asn
ENST00000650509.1:c.3423A>T ENSP00000496936.1:p.Lys1141Asn
ENST00000261609.11:c.11712A>T ENSP00000261609.7:p.Lys3904Asn
ENST00000564519.1:n.227A>T
NM_004667.5:c.11712A>T NP_004658.3:p.Lys3904Asn
XM_005268276.3:c.11598A>T XP_005268333.1:p.Lys3866Asn
XM_005268277.3:c.11598A>T XP_005268334.1:p.Lys3866Asn
XM_006720726.2:c.11697A>T XP_006720789.1:p.Lys3899Asn
XM_006720727.2:c.11454A>T XP_006720790.1:p.Lys3818Asn
XM_011522131.1:c.11229A>T XP_011520433.1:p.Lys3743Asn
XM_011522132.1:c.9228A>T XP_011520434.1:p.Lys3076Asn
XM_011522133.1:c.8457A>T XP_011520435.1:p.Lys2819Asn
XM_011522134.1:c.5829A>T XP_011520436.1:p.Lys1943Asn
XM_005268276.5:c.11598A>T XP_005268333.1:p.Lys3866Asn
XM_006720726.3:c.11697A>T XP_006720789.1:p.Lys3899Asn
XM_006720727.3:c.11454A>T XP_006720790.1:p.Lys3818Asn
XM_017022695.1:c.11598A>T XP_016878184.1:p.Lys3866Asn
XM_017022696.1:c.11598A>T XP_016878185.1:p.Lys3866Asn
XM_017022697.1:c.4878A>T XP_016878186.1:p.Lys1626Asn
XM_017022698.1:c.4878A>T XP_016878187.1:p.Lys1626Asn
NM_004667.6:c.11712A>T MANE Select NP_004658.3:p.Lys3904Asn