Canonical Allele Identifier: CA391381238

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386654T>G (hg19) ; chr15:g.28141508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141508T>G , CM000677.2:g.28141508T>G	GRCh38
NC_000015.9:g.28386654T>G , CM000677.1:g.28386654T>G	GRCh37
NC_000015.8:g.26060249T>G	NCBI36
NG_016355.1:g.185642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11939A>C MANE Select	ENSP00000261609.8:p.Glu3980Ala
ENST00000650509.1:c.3650A>C	ENSP00000496936.1:p.Glu1217Ala
ENST00000261609.11:c.11939A>C	ENSP00000261609.7:p.Glu3980Ala
NM_004667.5:c.11939A>C	NP_004658.3:p.Glu3980Ala
XM_005268276.3:c.11825A>C	XP_005268333.1:p.Glu3942Ala
XM_005268277.3:c.11825A>C	XP_005268334.1:p.Glu3942Ala
XM_006720726.2:c.11924A>C	XP_006720789.1:p.Glu3975Ala
XM_006720727.2:c.11681A>C	XP_006720790.1:p.Glu3894Ala
XM_011522131.1:c.11456A>C	XP_011520433.1:p.Glu3819Ala
XM_011522132.1:c.9455A>C	XP_011520434.1:p.Glu3152Ala
XM_011522133.1:c.8684A>C	XP_011520435.1:p.Glu2895Ala
XM_011522134.1:c.6056A>C	XP_011520436.1:p.Glu2019Ala
XM_005268276.5:c.11825A>C	XP_005268333.1:p.Glu3942Ala
XM_006720726.3:c.11924A>C	XP_006720789.1:p.Glu3975Ala
XM_006720727.3:c.11681A>C	XP_006720790.1:p.Glu3894Ala
XM_017022695.1:c.11825A>C	XP_016878184.1:p.Glu3942Ala
XM_017022696.1:c.11825A>C	XP_016878185.1:p.Glu3942Ala
XM_017022697.1:c.5105A>C	XP_016878186.1:p.Glu1702Ala
XM_017022698.1:c.5105A>C	XP_016878187.1:p.Glu1702Ala
NM_004667.6:c.11939A>C MANE Select	NP_004658.3:p.Glu3980Ala