Canonical Allele Identifier: CA2627382003

Gene: HERC2

Linked Data

• gnomAD v4: 15-28111745-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111745C>G , CM000677.2:g.28111745C>G	GRCh38
NC_000015.9:g.28356891C>G , CM000677.1:g.28356891C>G	GRCh37
NC_000015.8:g.26030486C>G	NCBI36
NG_016355.1:g.215405G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.*18G>C MANE Select	ENSP00000261609.8:n.*18G>C
ENST00000650509.1:c.6002G>C	ENSP00000496936.1:n.6002G>C
ENST00000261609.11:c.*18G>C	ENSP00000261609.7:n.*18G>C
ENST00000566635.5:n.1648G>C
NM_004667.5:c.*18G>C	NP_004658.3:n.*18G>C
XM_005268276.3:c.*18G>C	XP_005268333.1:n.*18G>C
XM_005268277.3:c.*18G>C	XP_005268334.1:n.*18G>C
XM_006720726.2:c.*18G>C	XP_006720789.1:n.*18G>C
XM_006720727.2:c.*18G>C	XP_006720790.1:n.*18G>C
XM_011522131.1:c.*18G>C	XP_011520433.1:n.*18G>C
XM_011522132.1:c.*18G>C	XP_011520434.1:n.*18G>C
XM_011522133.1:c.*18G>C	XP_011520435.1:n.*18G>C
XM_011522134.1:c.*18G>C	XP_011520436.1:n.*18G>C
XM_005268276.5:c.*18G>C	XP_005268333.1:n.*18G>C
XM_006720726.3:c.*18G>C	XP_006720789.1:n.*18G>C
XM_006720727.3:c.*18G>C	XP_006720790.1:n.*18G>C
XM_017022695.1:c.*18G>C	XP_016878184.1:n.*18G>C
XM_017022696.1:c.*18G>C	XP_016878185.1:n.*18G>C
XM_017022697.1:c.*18G>C	XP_016878186.1:n.*18G>C
XM_017022698.1:c.*18G>C	XP_016878187.1:n.*18G>C
NM_004667.6:c.*18G>C MANE Select	NP_004658.3:n.*18G>C