Canonical Allele Identifier: CA489234717

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386653T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141507T>C , CM000677.2:g.28141507T>C	GRCh38
NC_000015.9:g.28386653T>C , CM000677.1:g.28386653T>C	GRCh37
NC_000015.8:g.26060248T>C	NCBI36
NG_016355.1:g.185643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11940A>G MANE Select	ENSP00000261609.8:p.Glu3980=
ENST00000650509.1:c.3651A>G	ENSP00000496936.1:p.Glu1217=
ENST00000261609.11:c.11940A>G	ENSP00000261609.7:p.Glu3980=
NM_004667.5:c.11940A>G	NP_004658.3:p.Glu3980=
XM_005268276.3:c.11826A>G	XP_005268333.1:p.Glu3942=
XM_005268277.3:c.11826A>G	XP_005268334.1:p.Glu3942=
XM_006720726.2:c.11925A>G	XP_006720789.1:p.Glu3975=
XM_006720727.2:c.11682A>G	XP_006720790.1:p.Glu3894=
XM_011522131.1:c.11457A>G	XP_011520433.1:p.Glu3819=
XM_011522132.1:c.9456A>G	XP_011520434.1:p.Glu3152=
XM_011522133.1:c.8685A>G	XP_011520435.1:p.Glu2895=
XM_011522134.1:c.6057A>G	XP_011520436.1:p.Glu2019=
XM_005268276.5:c.11826A>G	XP_005268333.1:p.Glu3942=
XM_006720726.3:c.11925A>G	XP_006720789.1:p.Glu3975=
XM_006720727.3:c.11682A>G	XP_006720790.1:p.Glu3894=
XM_017022695.1:c.11826A>G	XP_016878184.1:p.Glu3942=
XM_017022696.1:c.11826A>G	XP_016878185.1:p.Glu3942=
XM_017022697.1:c.5106A>G	XP_016878186.1:p.Glu1702=
XM_017022698.1:c.5106A>G	XP_016878187.1:p.Glu1702=
NM_004667.6:c.11940A>G MANE Select	NP_004658.3:p.Glu3980=