Canonical Allele Identifier: CA2627381823

Gene: HERC2

Linked Data

• gnomAD v4: 15-28111533-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111533T>A , CM000677.2:g.28111533T>A	GRCh38
NC_000015.9:g.28356679T>A , CM000677.1:g.28356679T>A	GRCh37
NC_000015.8:g.26030274T>A	NCBI36
NG_016355.1:g.215617A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.*230A>T MANE Select	ENSP00000261609.8:n.*230A>T
ENST00000650509.1:c.6214A>T	ENSP00000496936.1:n.6214A>T
ENST00000261609.11:c.*230A>T	ENSP00000261609.7:n.*230A>T
ENST00000566635.5:n.1860A>T
NM_004667.5:c.*230A>T	NP_004658.3:n.*230A>T
XM_005268276.3:c.*230A>T	XP_005268333.1:n.*230A>T
XM_005268277.3:c.*230A>T	XP_005268334.1:n.*230A>T
XM_006720726.2:c.*230A>T	XP_006720789.1:n.*230A>T
XM_006720727.2:c.*230A>T	XP_006720790.1:n.*230A>T
XM_011522131.1:c.*230A>T	XP_011520433.1:n.*230A>T
XM_011522132.1:c.*230A>T	XP_011520434.1:n.*230A>T
XM_011522133.1:c.*230A>T	XP_011520435.1:n.*230A>T
XM_011522134.1:c.*230A>T	XP_011520436.1:n.*230A>T
XM_005268276.5:c.*230A>T	XP_005268333.1:n.*230A>T
XM_006720726.3:c.*230A>T	XP_006720789.1:n.*230A>T
XM_006720727.3:c.*230A>T	XP_006720790.1:n.*230A>T
XM_017022695.1:c.*230A>T	XP_016878184.1:n.*230A>T
XM_017022696.1:c.*230A>T	XP_016878185.1:n.*230A>T
XM_017022697.1:c.*230A>T	XP_016878186.1:n.*230A>T
XM_017022698.1:c.*230A>T	XP_016878187.1:n.*230A>T
NM_004667.6:c.*230A>T MANE Select	NP_004658.3:n.*230A>T