Canonical Allele Identifier: CA391381535

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386724A>T (hg19) ; chr15:g.28141578A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141578A>T , CM000677.2:g.28141578A>T	GRCh38
NC_000015.9:g.28386724A>T , CM000677.1:g.28386724A>T	GRCh37
NC_000015.8:g.26060319A>T	NCBI36
NG_016355.1:g.185572T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11869T>A MANE Select	ENSP00000261609.8:p.Trp3957Arg
ENST00000650509.1:c.3580T>A	ENSP00000496936.1:p.Trp1194Arg
ENST00000261609.11:c.11869T>A	ENSP00000261609.7:p.Trp3957Arg
NM_004667.5:c.11869T>A	NP_004658.3:p.Trp3957Arg
XM_005268276.3:c.11755T>A	XP_005268333.1:p.Trp3919Arg
XM_005268277.3:c.11755T>A	XP_005268334.1:p.Trp3919Arg
XM_006720726.2:c.11854T>A	XP_006720789.1:p.Trp3952Arg
XM_006720727.2:c.11611T>A	XP_006720790.1:p.Trp3871Arg
XM_011522131.1:c.11386T>A	XP_011520433.1:p.Trp3796Arg
XM_011522132.1:c.9385T>A	XP_011520434.1:p.Trp3129Arg
XM_011522133.1:c.8614T>A	XP_011520435.1:p.Trp2872Arg
XM_011522134.1:c.5986T>A	XP_011520436.1:p.Trp1996Arg
XM_005268276.5:c.11755T>A	XP_005268333.1:p.Trp3919Arg
XM_006720726.3:c.11854T>A	XP_006720789.1:p.Trp3952Arg
XM_006720727.3:c.11611T>A	XP_006720790.1:p.Trp3871Arg
XM_017022695.1:c.11755T>A	XP_016878184.1:p.Trp3919Arg
XM_017022696.1:c.11755T>A	XP_016878185.1:p.Trp3919Arg
XM_017022697.1:c.5035T>A	XP_016878186.1:p.Trp1679Arg
XM_017022698.1:c.5035T>A	XP_016878187.1:p.Trp1679Arg
NM_004667.6:c.11869T>A MANE Select	NP_004658.3:p.Trp3957Arg