Canonical Allele Identifier: CA391381780

Gene: HERC2

Linked Data

• COSMIC: COSM5362863 ; COSM5362864
• MyVariant Identifiers: chr15:g.28386877C>G (hg19) ; chr15:g.28141731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141731C>G , CM000677.2:g.28141731C>G	GRCh38
NC_000015.9:g.28386877C>G , CM000677.1:g.28386877C>G	GRCh37
NC_000015.8:g.26060472C>G	NCBI36
NG_016355.1:g.185419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11816G>C MANE Select	ENSP00000261609.8:p.Arg3939Thr
ENST00000650509.1:c.3527G>C	ENSP00000496936.1:p.Arg1176Thr
ENST00000261609.11:c.11816G>C	ENSP00000261609.7:p.Arg3939Thr
NM_004667.5:c.11816G>C	NP_004658.3:p.Arg3939Thr
XM_005268276.3:c.11702G>C	XP_005268333.1:p.Arg3901Thr
XM_005268277.3:c.11702G>C	XP_005268334.1:p.Arg3901Thr
XM_006720726.2:c.11801G>C	XP_006720789.1:p.Arg3934Thr
XM_006720727.2:c.11558G>C	XP_006720790.1:p.Arg3853Thr
XM_011522131.1:c.11333G>C	XP_011520433.1:p.Arg3778Thr
XM_011522132.1:c.9332G>C	XP_011520434.1:p.Arg3111Thr
XM_011522133.1:c.8561G>C	XP_011520435.1:p.Arg2854Thr
XM_011522134.1:c.5933G>C	XP_011520436.1:p.Arg1978Thr
XM_005268276.5:c.11702G>C	XP_005268333.1:p.Arg3901Thr
XM_006720726.3:c.11801G>C	XP_006720789.1:p.Arg3934Thr
XM_006720727.3:c.11558G>C	XP_006720790.1:p.Arg3853Thr
XM_017022695.1:c.11702G>C	XP_016878184.1:p.Arg3901Thr
XM_017022696.1:c.11702G>C	XP_016878185.1:p.Arg3901Thr
XM_017022697.1:c.4982G>C	XP_016878186.1:p.Arg1661Thr
XM_017022698.1:c.4982G>C	XP_016878187.1:p.Arg1661Thr
NM_004667.6:c.11816G>C MANE Select	NP_004658.3:p.Arg3939Thr