Canonical Allele Identifier: CA391381159
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141493A>T , CM000677.2:g.28141493A>T GRCh38
NC_000015.9:g.28386639A>T , CM000677.1:g.28386639A>T GRCh37
NC_000015.8:g.26060234A>T NCBI36
NG_016355.1:g.185657T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.11954T>A MANE Select ENSP00000261609.8:p.Leu3985His
ENST00000650509.1:c.3665T>A ENSP00000496936.1:p.Leu1222His
ENST00000261609.11:c.11954T>A ENSP00000261609.7:p.Leu3985His
NM_004667.5:c.11954T>A NP_004658.3:p.Leu3985His
XM_005268276.3:c.11840T>A XP_005268333.1:p.Leu3947His
XM_005268277.3:c.11840T>A XP_005268334.1:p.Leu3947His
XM_006720726.2:c.11939T>A XP_006720789.1:p.Leu3980His
XM_006720727.2:c.11696T>A XP_006720790.1:p.Leu3899His
XM_011522131.1:c.11471T>A XP_011520433.1:p.Leu3824His
XM_011522132.1:c.9470T>A XP_011520434.1:p.Leu3157His
XM_011522133.1:c.8699T>A XP_011520435.1:p.Leu2900His
XM_011522134.1:c.6071T>A XP_011520436.1:p.Leu2024His
XM_005268276.5:c.11840T>A XP_005268333.1:p.Leu3947His
XM_006720726.3:c.11939T>A XP_006720789.1:p.Leu3980His
XM_006720727.3:c.11696T>A XP_006720790.1:p.Leu3899His
XM_017022695.1:c.11840T>A XP_016878184.1:p.Leu3947His
XM_017022696.1:c.11840T>A XP_016878185.1:p.Leu3947His
XM_017022697.1:c.5120T>A XP_016878186.1:p.Leu1707His
XM_017022698.1:c.5120T>A XP_016878187.1:p.Leu1707His
NM_004667.6:c.11954T>A MANE Select NP_004658.3:p.Leu3985His