Canonical Allele Identifier: CA391381497

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386716A>T (hg19) ; chr15:g.28141570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141570A>T , CM000677.2:g.28141570A>T	GRCh38
NC_000015.9:g.28386716A>T , CM000677.1:g.28386716A>T	GRCh37
NC_000015.8:g.26060311A>T	NCBI36
NG_016355.1:g.185580T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11877T>A MANE Select	ENSP00000261609.8:p.His3959Gln
ENST00000650509.1:c.3588T>A	ENSP00000496936.1:p.His1196Gln
ENST00000261609.11:c.11877T>A	ENSP00000261609.7:p.His3959Gln
NM_004667.5:c.11877T>A	NP_004658.3:p.His3959Gln
XM_005268276.3:c.11763T>A	XP_005268333.1:p.His3921Gln
XM_005268277.3:c.11763T>A	XP_005268334.1:p.His3921Gln
XM_006720726.2:c.11862T>A	XP_006720789.1:p.His3954Gln
XM_006720727.2:c.11619T>A	XP_006720790.1:p.His3873Gln
XM_011522131.1:c.11394T>A	XP_011520433.1:p.His3798Gln
XM_011522132.1:c.9393T>A	XP_011520434.1:p.His3131Gln
XM_011522133.1:c.8622T>A	XP_011520435.1:p.His2874Gln
XM_011522134.1:c.5994T>A	XP_011520436.1:p.His1998Gln
XM_005268276.5:c.11763T>A	XP_005268333.1:p.His3921Gln
XM_006720726.3:c.11862T>A	XP_006720789.1:p.His3954Gln
XM_006720727.3:c.11619T>A	XP_006720790.1:p.His3873Gln
XM_017022695.1:c.11763T>A	XP_016878184.1:p.His3921Gln
XM_017022696.1:c.11763T>A	XP_016878185.1:p.His3921Gln
XM_017022697.1:c.5043T>A	XP_016878186.1:p.His1681Gln
XM_017022698.1:c.5043T>A	XP_016878187.1:p.His1681Gln
NM_004667.6:c.11877T>A MANE Select	NP_004658.3:p.His3959Gln