Canonical Allele Identifier: CA391381824

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386892A>T (hg19) ; chr15:g.28141746A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141746A>T , CM000677.2:g.28141746A>T	GRCh38
NC_000015.9:g.28386892A>T , CM000677.1:g.28386892A>T	GRCh37
NC_000015.8:g.26060487A>T	NCBI36
NG_016355.1:g.185404T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11801T>A MANE Select	ENSP00000261609.8:p.Val3934Glu
ENST00000650509.1:c.3512T>A	ENSP00000496936.1:p.Val1171Glu
ENST00000261609.11:c.11801T>A	ENSP00000261609.7:p.Val3934Glu
ENST00000564519.1:n.316T>A
NM_004667.5:c.11801T>A	NP_004658.3:p.Val3934Glu
XM_005268276.3:c.11687T>A	XP_005268333.1:p.Val3896Glu
XM_005268277.3:c.11687T>A	XP_005268334.1:p.Val3896Glu
XM_006720726.2:c.11786T>A	XP_006720789.1:p.Val3929Glu
XM_006720727.2:c.11543T>A	XP_006720790.1:p.Val3848Glu
XM_011522131.1:c.11318T>A	XP_011520433.1:p.Val3773Glu
XM_011522132.1:c.9317T>A	XP_011520434.1:p.Val3106Glu
XM_011522133.1:c.8546T>A	XP_011520435.1:p.Val2849Glu
XM_011522134.1:c.5918T>A	XP_011520436.1:p.Val1973Glu
XM_005268276.5:c.11687T>A	XP_005268333.1:p.Val3896Glu
XM_006720726.3:c.11786T>A	XP_006720789.1:p.Val3929Glu
XM_006720727.3:c.11543T>A	XP_006720790.1:p.Val3848Glu
XM_017022695.1:c.11687T>A	XP_016878184.1:p.Val3896Glu
XM_017022696.1:c.11687T>A	XP_016878185.1:p.Val3896Glu
XM_017022697.1:c.4967T>A	XP_016878186.1:p.Val1656Glu
XM_017022698.1:c.4967T>A	XP_016878187.1:p.Val1656Glu
NM_004667.6:c.11801T>A MANE Select	NP_004658.3:p.Val3934Glu