Canonical Allele Identifier: CA489235061

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386951G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141805G>A , CM000677.2:g.28141805G>A	GRCh38
NC_000015.9:g.28386951G>A , CM000677.1:g.28386951G>A	GRCh37
NC_000015.8:g.26060546G>A	NCBI36
NG_016355.1:g.185345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11742C>T MANE Select	ENSP00000261609.8:p.Asn3914=
ENST00000650509.1:c.3453C>T	ENSP00000496936.1:p.Asn1151=
ENST00000261609.11:c.11742C>T	ENSP00000261609.7:p.Asn3914=
ENST00000564519.1:n.257C>T
NM_004667.5:c.11742C>T	NP_004658.3:p.Asn3914=
XM_005268276.3:c.11628C>T	XP_005268333.1:p.Asn3876=
XM_005268277.3:c.11628C>T	XP_005268334.1:p.Asn3876=
XM_006720726.2:c.11727C>T	XP_006720789.1:p.Asn3909=
XM_006720727.2:c.11484C>T	XP_006720790.1:p.Asn3828=
XM_011522131.1:c.11259C>T	XP_011520433.1:p.Asn3753=
XM_011522132.1:c.9258C>T	XP_011520434.1:p.Asn3086=
XM_011522133.1:c.8487C>T	XP_011520435.1:p.Asn2829=
XM_011522134.1:c.5859C>T	XP_011520436.1:p.Asn1953=
XM_005268276.5:c.11628C>T	XP_005268333.1:p.Asn3876=
XM_006720726.3:c.11727C>T	XP_006720789.1:p.Asn3909=
XM_006720727.3:c.11484C>T	XP_006720790.1:p.Asn3828=
XM_017022695.1:c.11628C>T	XP_016878184.1:p.Asn3876=
XM_017022696.1:c.11628C>T	XP_016878185.1:p.Asn3876=
XM_017022697.1:c.4908C>T	XP_016878186.1:p.Asn1636=
XM_017022698.1:c.4908C>T	XP_016878187.1:p.Asn1636=
NM_004667.6:c.11742C>T MANE Select	NP_004658.3:p.Asn3914=