Canonical Allele Identifier: CA489235048

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141795G>A , CM000677.2:g.28141795G>A	GRCh38
NC_000015.9:g.28386941G>A , CM000677.1:g.28386941G>A	GRCh37
NC_000015.8:g.26060536G>A	NCBI36
NG_016355.1:g.185355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11752C>T MANE Select	ENSP00000261609.8:p.Leu3918=
ENST00000650509.1:c.3463C>T	ENSP00000496936.1:p.Leu1155=
ENST00000261609.11:c.11752C>T	ENSP00000261609.7:p.Leu3918=
ENST00000564519.1:n.267C>T
NM_004667.5:c.11752C>T	NP_004658.3:p.Leu3918=
XM_005268276.3:c.11638C>T	XP_005268333.1:p.Leu3880=
XM_005268277.3:c.11638C>T	XP_005268334.1:p.Leu3880=
XM_006720726.2:c.11737C>T	XP_006720789.1:p.Leu3913=
XM_006720727.2:c.11494C>T	XP_006720790.1:p.Leu3832=
XM_011522131.1:c.11269C>T	XP_011520433.1:p.Leu3757=
XM_011522132.1:c.9268C>T	XP_011520434.1:p.Leu3090=
XM_011522133.1:c.8497C>T	XP_011520435.1:p.Leu2833=
XM_011522134.1:c.5869C>T	XP_011520436.1:p.Leu1957=
XM_005268276.5:c.11638C>T	XP_005268333.1:p.Leu3880=
XM_006720726.3:c.11737C>T	XP_006720789.1:p.Leu3913=
XM_006720727.3:c.11494C>T	XP_006720790.1:p.Leu3832=
XM_017022695.1:c.11638C>T	XP_016878184.1:p.Leu3880=
XM_017022696.1:c.11638C>T	XP_016878185.1:p.Leu3880=
XM_017022697.1:c.4918C>T	XP_016878186.1:p.Leu1640=
XM_017022698.1:c.4918C>T	XP_016878187.1:p.Leu1640=
NM_004667.6:c.11752C>T MANE Select	NP_004658.3:p.Leu3918=