Canonical Allele Identifier: CA391381333

Gene: HERC2

Linked Data

• dbSNP Id: rs1891223477
• MyVariant Identifiers: chr15:g.28386678T>A (hg19) ; chr15:g.28141532T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141532T>A , CM000677.2:g.28141532T>A	GRCh38
NC_000015.9:g.28386678T>A , CM000677.1:g.28386678T>A	GRCh37
NC_000015.8:g.26060273T>A	NCBI36
NG_016355.1:g.185618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11915A>T MANE Select	ENSP00000261609.8:p.Lys3972Ile
ENST00000650509.1:c.3626A>T	ENSP00000496936.1:p.Lys1209Ile
ENST00000261609.11:c.11915A>T	ENSP00000261609.7:p.Lys3972Ile
NM_004667.5:c.11915A>T	NP_004658.3:p.Lys3972Ile
XM_005268276.3:c.11801A>T	XP_005268333.1:p.Lys3934Ile
XM_005268277.3:c.11801A>T	XP_005268334.1:p.Lys3934Ile
XM_006720726.2:c.11900A>T	XP_006720789.1:p.Lys3967Ile
XM_006720727.2:c.11657A>T	XP_006720790.1:p.Lys3886Ile
XM_011522131.1:c.11432A>T	XP_011520433.1:p.Lys3811Ile
XM_011522132.1:c.9431A>T	XP_011520434.1:p.Lys3144Ile
XM_011522133.1:c.8660A>T	XP_011520435.1:p.Lys2887Ile
XM_011522134.1:c.6032A>T	XP_011520436.1:p.Lys2011Ile
XM_005268276.5:c.11801A>T	XP_005268333.1:p.Lys3934Ile
XM_006720726.3:c.11900A>T	XP_006720789.1:p.Lys3967Ile
XM_006720727.3:c.11657A>T	XP_006720790.1:p.Lys3886Ile
XM_017022695.1:c.11801A>T	XP_016878184.1:p.Lys3934Ile
XM_017022696.1:c.11801A>T	XP_016878185.1:p.Lys3934Ile
XM_017022697.1:c.5081A>T	XP_016878186.1:p.Lys1694Ile
XM_017022698.1:c.5081A>T	XP_016878187.1:p.Lys1694Ile
NM_004667.6:c.11915A>T MANE Select	NP_004658.3:p.Lys3972Ile