Canonical Allele Identifier: CA391381897

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386920A>T (hg19) ; chr15:g.28141774A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141774A>T , CM000677.2:g.28141774A>T	GRCh38
NC_000015.9:g.28386920A>T , CM000677.1:g.28386920A>T	GRCh37
NC_000015.8:g.26060515A>T	NCBI36
NG_016355.1:g.185376T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11773T>A MANE Select	ENSP00000261609.8:p.Phe3925Ile
ENST00000650509.1:c.3484T>A	ENSP00000496936.1:p.Phe1162Ile
ENST00000261609.11:c.11773T>A	ENSP00000261609.7:p.Phe3925Ile
ENST00000564519.1:n.288T>A
NM_004667.5:c.11773T>A	NP_004658.3:p.Phe3925Ile
XM_005268276.3:c.11659T>A	XP_005268333.1:p.Phe3887Ile
XM_005268277.3:c.11659T>A	XP_005268334.1:p.Phe3887Ile
XM_006720726.2:c.11758T>A	XP_006720789.1:p.Phe3920Ile
XM_006720727.2:c.11515T>A	XP_006720790.1:p.Phe3839Ile
XM_011522131.1:c.11290T>A	XP_011520433.1:p.Phe3764Ile
XM_011522132.1:c.9289T>A	XP_011520434.1:p.Phe3097Ile
XM_011522133.1:c.8518T>A	XP_011520435.1:p.Phe2840Ile
XM_011522134.1:c.5890T>A	XP_011520436.1:p.Phe1964Ile
XM_005268276.5:c.11659T>A	XP_005268333.1:p.Phe3887Ile
XM_006720726.3:c.11758T>A	XP_006720789.1:p.Phe3920Ile
XM_006720727.3:c.11515T>A	XP_006720790.1:p.Phe3839Ile
XM_017022695.1:c.11659T>A	XP_016878184.1:p.Phe3887Ile
XM_017022696.1:c.11659T>A	XP_016878185.1:p.Phe3887Ile
XM_017022697.1:c.4939T>A	XP_016878186.1:p.Phe1647Ile
XM_017022698.1:c.4939T>A	XP_016878187.1:p.Phe1647Ile
NM_004667.6:c.11773T>A MANE Select	NP_004658.3:p.Phe3925Ile