Canonical Allele Identifier: CA391381922
Gene: HERC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28141785C>A , CM000677.2:g.28141785C>A GRCh38
NC_000015.9:g.28386931C>A , CM000677.1:g.28386931C>A GRCh37
NC_000015.8:g.26060526C>A NCBI36
NG_016355.1:g.185365G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261609.13:c.11762G>T MANE Select ENSP00000261609.8:p.Ser3921Ile
ENST00000650509.1:c.3473G>T ENSP00000496936.1:p.Ser1158Ile
ENST00000261609.11:c.11762G>T ENSP00000261609.7:p.Ser3921Ile
ENST00000564519.1:n.277G>T
NM_004667.5:c.11762G>T NP_004658.3:p.Ser3921Ile
XM_005268276.3:c.11648G>T XP_005268333.1:p.Ser3883Ile
XM_005268277.3:c.11648G>T XP_005268334.1:p.Ser3883Ile
XM_006720726.2:c.11747G>T XP_006720789.1:p.Ser3916Ile
XM_006720727.2:c.11504G>T XP_006720790.1:p.Ser3835Ile
XM_011522131.1:c.11279G>T XP_011520433.1:p.Ser3760Ile
XM_011522132.1:c.9278G>T XP_011520434.1:p.Ser3093Ile
XM_011522133.1:c.8507G>T XP_011520435.1:p.Ser2836Ile
XM_011522134.1:c.5879G>T XP_011520436.1:p.Ser1960Ile
XM_005268276.5:c.11648G>T XP_005268333.1:p.Ser3883Ile
XM_006720726.3:c.11747G>T XP_006720789.1:p.Ser3916Ile
XM_006720727.3:c.11504G>T XP_006720790.1:p.Ser3835Ile
XM_017022695.1:c.11648G>T XP_016878184.1:p.Ser3883Ile
XM_017022696.1:c.11648G>T XP_016878185.1:p.Ser3883Ile
XM_017022697.1:c.4928G>T XP_016878186.1:p.Ser1643Ile
XM_017022698.1:c.4928G>T XP_016878187.1:p.Ser1643Ile
NM_004667.6:c.11762G>T MANE Select NP_004658.3:p.Ser3921Ile