Canonical Allele Identifier: CA391380873

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386591G>T (hg19) ; chr15:g.28141445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141445G>T , CM000677.2:g.28141445G>T	GRCh38
NC_000015.9:g.28386591G>T , CM000677.1:g.28386591G>T	GRCh37
NC_000015.8:g.26060186G>T	NCBI36
NG_016355.1:g.185705C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12002C>A MANE Select	ENSP00000261609.8:p.Thr4001Lys
ENST00000650509.1:c.3713C>A	ENSP00000496936.1:p.Thr1238Lys
ENST00000261609.11:c.12002C>A	ENSP00000261609.7:p.Thr4001Lys
NM_004667.5:c.12002C>A	NP_004658.3:p.Thr4001Lys
XM_005268276.3:c.11888C>A	XP_005268333.1:p.Thr3963Lys
XM_005268277.3:c.11888C>A	XP_005268334.1:p.Thr3963Lys
XM_006720726.2:c.11987C>A	XP_006720789.1:p.Thr3996Lys
XM_006720727.2:c.11744C>A	XP_006720790.1:p.Thr3915Lys
XM_011522131.1:c.11519C>A	XP_011520433.1:p.Thr3840Lys
XM_011522132.1:c.9518C>A	XP_011520434.1:p.Thr3173Lys
XM_011522133.1:c.8747C>A	XP_011520435.1:p.Thr2916Lys
XM_011522134.1:c.6119C>A	XP_011520436.1:p.Thr2040Lys
XM_005268276.5:c.11888C>A	XP_005268333.1:p.Thr3963Lys
XM_006720726.3:c.11987C>A	XP_006720789.1:p.Thr3996Lys
XM_006720727.3:c.11744C>A	XP_006720790.1:p.Thr3915Lys
XM_017022695.1:c.11888C>A	XP_016878184.1:p.Thr3963Lys
XM_017022696.1:c.11888C>A	XP_016878185.1:p.Thr3963Lys
XM_017022697.1:c.5168C>A	XP_016878186.1:p.Thr1723Lys
XM_017022698.1:c.5168C>A	XP_016878187.1:p.Thr1723Lys
NM_004667.6:c.12002C>A MANE Select	NP_004658.3:p.Thr4001Lys