Canonical Allele Identifier: CA391381815

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386887A>T (hg19) ; chr15:g.28141741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141741A>T , CM000677.2:g.28141741A>T	GRCh38
NC_000015.9:g.28386887A>T , CM000677.1:g.28386887A>T	GRCh37
NC_000015.8:g.26060482A>T	NCBI36
NG_016355.1:g.185409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11806T>A MANE Select	ENSP00000261609.8:p.Trp3936Arg
ENST00000650509.1:c.3517T>A	ENSP00000496936.1:p.Trp1173Arg
ENST00000261609.11:c.11806T>A	ENSP00000261609.7:p.Trp3936Arg
ENST00000564519.1:n.321T>A
NM_004667.5:c.11806T>A	NP_004658.3:p.Trp3936Arg
XM_005268276.3:c.11692T>A	XP_005268333.1:p.Trp3898Arg
XM_005268277.3:c.11692T>A	XP_005268334.1:p.Trp3898Arg
XM_006720726.2:c.11791T>A	XP_006720789.1:p.Trp3931Arg
XM_006720727.2:c.11548T>A	XP_006720790.1:p.Trp3850Arg
XM_011522131.1:c.11323T>A	XP_011520433.1:p.Trp3775Arg
XM_011522132.1:c.9322T>A	XP_011520434.1:p.Trp3108Arg
XM_011522133.1:c.8551T>A	XP_011520435.1:p.Trp2851Arg
XM_011522134.1:c.5923T>A	XP_011520436.1:p.Trp1975Arg
XM_005268276.5:c.11692T>A	XP_005268333.1:p.Trp3898Arg
XM_006720726.3:c.11791T>A	XP_006720789.1:p.Trp3931Arg
XM_006720727.3:c.11548T>A	XP_006720790.1:p.Trp3850Arg
XM_017022695.1:c.11692T>A	XP_016878184.1:p.Trp3898Arg
XM_017022696.1:c.11692T>A	XP_016878185.1:p.Trp3898Arg
XM_017022697.1:c.4972T>A	XP_016878186.1:p.Trp1658Arg
XM_017022698.1:c.4972T>A	XP_016878187.1:p.Trp1658Arg
NM_004667.6:c.11806T>A MANE Select	NP_004658.3:p.Trp3936Arg