Canonical Allele Identifier: CA2166520591

Gene: HERC2

Linked Data

• dbSNP Id: rs1898649751
• gnomAD v3: 15-28207838-A-G
• gnomAD v4: 15-28207838-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28207838A>G , CM000677.2:g.28207838A>G	GRCh38
NC_000015.9:g.28452984A>G , CM000677.1:g.28452984A>G	GRCh37
NC_000015.8:g.26126579A>G	NCBI36
NG_016355.1:g.119312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.7070-1456T>C MANE Select	ENSP00000261609.8:n.7070-1456T>C
ENST00000261609.11:c.7070-1456T>C	ENSP00000261609.7:n.7070-1456T>C
NM_004667.5:c.7070-1456T>C	NP_004658.3:n.7070-1456T>C
XM_005268276.3:c.6956-1456T>C	XP_005268333.1:n.6956-1456T>C
XM_005268277.3:c.6956-1456T>C	XP_005268334.1:n.6956-1456T>C
XM_006720726.2:c.7055-1456T>C	XP_006720789.1:n.7055-1456T>C
XM_006720727.2:c.6812-1456T>C	XP_006720790.1:n.6812-1456T>C
XM_011522131.1:c.6587-1456T>C	XP_011520433.1:n.6587-1456T>C
XM_011522132.1:c.4586-1456T>C	XP_011520434.1:n.4586-1456T>C
XM_011522133.1:c.3815-1456T>C	XP_011520435.1:n.3815-1456T>C
XM_011522134.1:c.1187-1456T>C	XP_011520436.1:n.1187-1456T>C
XM_011522135.1:c.7070-1456T>C	XP_011520437.1:n.7070-1456T>C
XM_011522136.1:c.7070-1456T>C	XP_011520438.1:n.7070-1456T>C
XM_011522137.1:c.7070-1456T>C	XP_011520439.1:n.7070-1456T>C
XR_931930.1:n.7199-1456T>C
XR_931931.1:n.7199-1456T>C
XM_005268276.5:c.6956-1456T>C	XP_005268333.1:n.6956-1456T>C
XM_006720726.3:c.7055-1456T>C	XP_006720789.1:n.7055-1456T>C
XM_006720727.3:c.6812-1456T>C	XP_006720790.1:n.6812-1456T>C
XM_017022695.1:c.6956-1456T>C	XP_016878184.1:n.6956-1456T>C
XM_017022696.1:c.6956-1456T>C	XP_016878185.1:n.6956-1456T>C
XM_017022697.1:c.236-1456T>C	XP_016878186.1:n.236-1456T>C
XM_017022698.1:c.236-1456T>C	XP_016878187.1:n.236-1456T>C
XR_001751410.1:n.7200-1456T>C
XR_931930.2:n.7200-1456T>C
NM_004667.6:c.7070-1456T>C MANE Select	NP_004658.3:n.7070-1456T>C