Canonical Allele Identifier: CA391381304

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386670C>T (hg19) ; chr15:g.28141524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141524C>T , CM000677.2:g.28141524C>T	GRCh38
NC_000015.9:g.28386670C>T , CM000677.1:g.28386670C>T	GRCh37
NC_000015.8:g.26060265C>T	NCBI36
NG_016355.1:g.185626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11923G>A MANE Select	ENSP00000261609.8:p.Val3975Ile
ENST00000650509.1:c.3634G>A	ENSP00000496936.1:p.Val1212Ile
ENST00000261609.11:c.11923G>A	ENSP00000261609.7:p.Val3975Ile
NM_004667.5:c.11923G>A	NP_004658.3:p.Val3975Ile
XM_005268276.3:c.11809G>A	XP_005268333.1:p.Val3937Ile
XM_005268277.3:c.11809G>A	XP_005268334.1:p.Val3937Ile
XM_006720726.2:c.11908G>A	XP_006720789.1:p.Val3970Ile
XM_006720727.2:c.11665G>A	XP_006720790.1:p.Val3889Ile
XM_011522131.1:c.11440G>A	XP_011520433.1:p.Val3814Ile
XM_011522132.1:c.9439G>A	XP_011520434.1:p.Val3147Ile
XM_011522133.1:c.8668G>A	XP_011520435.1:p.Val2890Ile
XM_011522134.1:c.6040G>A	XP_011520436.1:p.Val2014Ile
XM_005268276.5:c.11809G>A	XP_005268333.1:p.Val3937Ile
XM_006720726.3:c.11908G>A	XP_006720789.1:p.Val3970Ile
XM_006720727.3:c.11665G>A	XP_006720790.1:p.Val3889Ile
XM_017022695.1:c.11809G>A	XP_016878184.1:p.Val3937Ile
XM_017022696.1:c.11809G>A	XP_016878185.1:p.Val3937Ile
XM_017022697.1:c.5089G>A	XP_016878186.1:p.Val1697Ile
XM_017022698.1:c.5089G>A	XP_016878187.1:p.Val1697Ile
NM_004667.6:c.11923G>A MANE Select	NP_004658.3:p.Val3975Ile