Canonical Allele Identifier: CA2166521104

Gene: HERC2

Linked Data

• dbSNP Id: rs1898739918

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28208543C>G , CM000677.2:g.28208543C>G	GRCh38
NC_000015.9:g.28453689C>G , CM000677.1:g.28453689C>G	GRCh37
NC_000015.8:g.26127284C>G	NCBI36
NG_016355.1:g.118607G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.7070-2161G>C MANE Select	ENSP00000261609.8:n.7070-2161G>C
ENST00000261609.11:c.7070-2161G>C	ENSP00000261609.7:n.7070-2161G>C
NM_004667.5:c.7070-2161G>C	NP_004658.3:n.7070-2161G>C
XM_005268276.3:c.6956-2161G>C	XP_005268333.1:n.6956-2161G>C
XM_005268277.3:c.6956-2161G>C	XP_005268334.1:n.6956-2161G>C
XM_006720726.2:c.7055-2161G>C	XP_006720789.1:n.7055-2161G>C
XM_006720727.2:c.6812-2161G>C	XP_006720790.1:n.6812-2161G>C
XM_011522131.1:c.6587-2161G>C	XP_011520433.1:n.6587-2161G>C
XM_011522132.1:c.4586-2161G>C	XP_011520434.1:n.4586-2161G>C
XM_011522133.1:c.3815-2161G>C	XP_011520435.1:n.3815-2161G>C
XM_011522134.1:c.1187-2161G>C	XP_011520436.1:n.1187-2161G>C
XM_011522135.1:c.7070-2161G>C	XP_011520437.1:n.7070-2161G>C
XM_011522136.1:c.7070-2161G>C	XP_011520438.1:n.7070-2161G>C
XM_011522137.1:c.7070-2161G>C	XP_011520439.1:n.7070-2161G>C
XR_931930.1:n.7199-2161G>C
XR_931931.1:n.7199-2161G>C
XM_005268276.5:c.6956-2161G>C	XP_005268333.1:n.6956-2161G>C
XM_006720726.3:c.7055-2161G>C	XP_006720789.1:n.7055-2161G>C
XM_006720727.3:c.6812-2161G>C	XP_006720790.1:n.6812-2161G>C
XM_017022695.1:c.6956-2161G>C	XP_016878184.1:n.6956-2161G>C
XM_017022696.1:c.6956-2161G>C	XP_016878185.1:n.6956-2161G>C
XM_017022697.1:c.236-2161G>C	XP_016878186.1:n.236-2161G>C
XM_017022698.1:c.236-2161G>C	XP_016878187.1:n.236-2161G>C
XR_001751410.1:n.7200-2161G>C
XR_931930.2:n.7200-2161G>C
NM_004667.6:c.7070-2161G>C MANE Select	NP_004658.3:n.7070-2161G>C