Canonical Allele Identifier: CA391381975

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386954T>A (hg19) ; chr15:g.28141808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141808T>A , CM000677.2:g.28141808T>A	GRCh38
NC_000015.9:g.28386954T>A , CM000677.1:g.28386954T>A	GRCh37
NC_000015.8:g.26060549T>A	NCBI36
NG_016355.1:g.185342A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11739A>T MANE Select	ENSP00000261609.8:p.Glu3913Asp
ENST00000650509.1:c.3450A>T	ENSP00000496936.1:p.Glu1150Asp
ENST00000261609.11:c.11739A>T	ENSP00000261609.7:p.Glu3913Asp
ENST00000564519.1:n.254A>T
NM_004667.5:c.11739A>T	NP_004658.3:p.Glu3913Asp
XM_005268276.3:c.11625A>T	XP_005268333.1:p.Glu3875Asp
XM_005268277.3:c.11625A>T	XP_005268334.1:p.Glu3875Asp
XM_006720726.2:c.11724A>T	XP_006720789.1:p.Glu3908Asp
XM_006720727.2:c.11481A>T	XP_006720790.1:p.Glu3827Asp
XM_011522131.1:c.11256A>T	XP_011520433.1:p.Glu3752Asp
XM_011522132.1:c.9255A>T	XP_011520434.1:p.Glu3085Asp
XM_011522133.1:c.8484A>T	XP_011520435.1:p.Glu2828Asp
XM_011522134.1:c.5856A>T	XP_011520436.1:p.Glu1952Asp
XM_005268276.5:c.11625A>T	XP_005268333.1:p.Glu3875Asp
XM_006720726.3:c.11724A>T	XP_006720789.1:p.Glu3908Asp
XM_006720727.3:c.11481A>T	XP_006720790.1:p.Glu3827Asp
XM_017022695.1:c.11625A>T	XP_016878184.1:p.Glu3875Asp
XM_017022696.1:c.11625A>T	XP_016878185.1:p.Glu3875Asp
XM_017022697.1:c.4905A>T	XP_016878186.1:p.Glu1635Asp
XM_017022698.1:c.4905A>T	XP_016878187.1:p.Glu1635Asp
NM_004667.6:c.11739A>T MANE Select	NP_004658.3:p.Glu3913Asp