Canonical Allele Identifier: CA391381969

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386952T>A (hg19) ; chr15:g.28141806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141806T>A , CM000677.2:g.28141806T>A	GRCh38
NC_000015.9:g.28386952T>A , CM000677.1:g.28386952T>A	GRCh37
NC_000015.8:g.26060547T>A	NCBI36
NG_016355.1:g.185344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11741A>T MANE Select	ENSP00000261609.8:p.Asn3914Ile
ENST00000650509.1:c.3452A>T	ENSP00000496936.1:p.Asn1151Ile
ENST00000261609.11:c.11741A>T	ENSP00000261609.7:p.Asn3914Ile
ENST00000564519.1:n.256A>T
NM_004667.5:c.11741A>T	NP_004658.3:p.Asn3914Ile
XM_005268276.3:c.11627A>T	XP_005268333.1:p.Asn3876Ile
XM_005268277.3:c.11627A>T	XP_005268334.1:p.Asn3876Ile
XM_006720726.2:c.11726A>T	XP_006720789.1:p.Asn3909Ile
XM_006720727.2:c.11483A>T	XP_006720790.1:p.Asn3828Ile
XM_011522131.1:c.11258A>T	XP_011520433.1:p.Asn3753Ile
XM_011522132.1:c.9257A>T	XP_011520434.1:p.Asn3086Ile
XM_011522133.1:c.8486A>T	XP_011520435.1:p.Asn2829Ile
XM_011522134.1:c.5858A>T	XP_011520436.1:p.Asn1953Ile
XM_005268276.5:c.11627A>T	XP_005268333.1:p.Asn3876Ile
XM_006720726.3:c.11726A>T	XP_006720789.1:p.Asn3909Ile
XM_006720727.3:c.11483A>T	XP_006720790.1:p.Asn3828Ile
XM_017022695.1:c.11627A>T	XP_016878184.1:p.Asn3876Ile
XM_017022696.1:c.11627A>T	XP_016878185.1:p.Asn3876Ile
XM_017022697.1:c.4907A>T	XP_016878186.1:p.Asn1636Ile
XM_017022698.1:c.4907A>T	XP_016878187.1:p.Asn1636Ile
NM_004667.6:c.11741A>T MANE Select	NP_004658.3:p.Asn3914Ile