Canonical Allele Identifier: CA391381891

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386918A>T (hg19) ; chr15:g.28141772A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141772A>T , CM000677.2:g.28141772A>T	GRCh38
NC_000015.9:g.28386918A>T , CM000677.1:g.28386918A>T	GRCh37
NC_000015.8:g.26060513A>T	NCBI36
NG_016355.1:g.185378T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11775T>A MANE Select	ENSP00000261609.8:p.Phe3925Leu
ENST00000650509.1:c.3486T>A	ENSP00000496936.1:p.Phe1162Leu
ENST00000261609.11:c.11775T>A	ENSP00000261609.7:p.Phe3925Leu
ENST00000564519.1:n.290T>A
NM_004667.5:c.11775T>A	NP_004658.3:p.Phe3925Leu
XM_005268276.3:c.11661T>A	XP_005268333.1:p.Phe3887Leu
XM_005268277.3:c.11661T>A	XP_005268334.1:p.Phe3887Leu
XM_006720726.2:c.11760T>A	XP_006720789.1:p.Phe3920Leu
XM_006720727.2:c.11517T>A	XP_006720790.1:p.Phe3839Leu
XM_011522131.1:c.11292T>A	XP_011520433.1:p.Phe3764Leu
XM_011522132.1:c.9291T>A	XP_011520434.1:p.Phe3097Leu
XM_011522133.1:c.8520T>A	XP_011520435.1:p.Phe2840Leu
XM_011522134.1:c.5892T>A	XP_011520436.1:p.Phe1964Leu
XM_005268276.5:c.11661T>A	XP_005268333.1:p.Phe3887Leu
XM_006720726.3:c.11760T>A	XP_006720789.1:p.Phe3920Leu
XM_006720727.3:c.11517T>A	XP_006720790.1:p.Phe3839Leu
XM_017022695.1:c.11661T>A	XP_016878184.1:p.Phe3887Leu
XM_017022696.1:c.11661T>A	XP_016878185.1:p.Phe3887Leu
XM_017022697.1:c.4941T>A	XP_016878186.1:p.Phe1647Leu
XM_017022698.1:c.4941T>A	XP_016878187.1:p.Phe1647Leu
NM_004667.6:c.11775T>A MANE Select	NP_004658.3:p.Phe3925Leu