Canonical Allele Identifier: CA391381831
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141749A>G , CM000677.2:g.28141749A>G GRCh38
NC_000015.9:g.28386895A>G , CM000677.1:g.28386895A>G GRCh37
NC_000015.8:g.26060490A>G NCBI36
NG_016355.1:g.185401T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11798T>C MANE Select ENSP00000261609.8:p.Leu3933Pro
ENST00000650509.1:c.3509T>C ENSP00000496936.1:p.Leu1170Pro
ENST00000261609.11:c.11798T>C ENSP00000261609.7:p.Leu3933Pro
ENST00000564519.1:n.313T>C
NM_004667.5:c.11798T>C NP_004658.3:p.Leu3933Pro
XM_005268276.3:c.11684T>C XP_005268333.1:p.Leu3895Pro
XM_005268277.3:c.11684T>C XP_005268334.1:p.Leu3895Pro
XM_006720726.2:c.11783T>C XP_006720789.1:p.Leu3928Pro
XM_006720727.2:c.11540T>C XP_006720790.1:p.Leu3847Pro
XM_011522131.1:c.11315T>C XP_011520433.1:p.Leu3772Pro
XM_011522132.1:c.9314T>C XP_011520434.1:p.Leu3105Pro
XM_011522133.1:c.8543T>C XP_011520435.1:p.Leu2848Pro
XM_011522134.1:c.5915T>C XP_011520436.1:p.Leu1972Pro
XM_005268276.5:c.11684T>C XP_005268333.1:p.Leu3895Pro
XM_006720726.3:c.11783T>C XP_006720789.1:p.Leu3928Pro
XM_006720727.3:c.11540T>C XP_006720790.1:p.Leu3847Pro
XM_017022695.1:c.11684T>C XP_016878184.1:p.Leu3895Pro
XM_017022696.1:c.11684T>C XP_016878185.1:p.Leu3895Pro
XM_017022697.1:c.4964T>C XP_016878186.1:p.Leu1655Pro
XM_017022698.1:c.4964T>C XP_016878187.1:p.Leu1655Pro
NM_004667.6:c.11798T>C MANE Select NP_004658.3:p.Leu3933Pro