Canonical Allele Identifier: CA7440437

Gene: HERC2

Linked Data

• dbSNP Id: rs746073078
• ExAC: 15:28386725 T / A
• gnomAD v2: 15-28386725-T-A
• MyVariant Identifiers: chr15:g.28386725T>A (hg19) ; chr15:g.28141579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141579T>A , CM000677.2:g.28141579T>A	GRCh38
NC_000015.9:g.28386725T>A , CM000677.1:g.28386725T>A	GRCh37
NC_000015.8:g.26060320T>A	NCBI36
NG_016355.1:g.185571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11868A>T MANE Select	ENSP00000261609.8:p.Gly3956=
ENST00000650509.1:c.3579A>T	ENSP00000496936.1:p.Gly1193=
ENST00000261609.11:c.11868A>T	ENSP00000261609.7:p.Gly3956=
NM_004667.5:c.11868A>T	NP_004658.3:p.Gly3956=
XM_005268276.3:c.11754A>T	XP_005268333.1:p.Gly3918=
XM_005268277.3:c.11754A>T	XP_005268334.1:p.Gly3918=
XM_006720726.2:c.11853A>T	XP_006720789.1:p.Gly3951=
XM_006720727.2:c.11610A>T	XP_006720790.1:p.Gly3870=
XM_011522131.1:c.11385A>T	XP_011520433.1:p.Gly3795=
XM_011522132.1:c.9384A>T	XP_011520434.1:p.Gly3128=
XM_011522133.1:c.8613A>T	XP_011520435.1:p.Gly2871=
XM_011522134.1:c.5985A>T	XP_011520436.1:p.Gly1995=
XM_005268276.5:c.11754A>T	XP_005268333.1:p.Gly3918=
XM_006720726.3:c.11853A>T	XP_006720789.1:p.Gly3951=
XM_006720727.3:c.11610A>T	XP_006720790.1:p.Gly3870=
XM_017022695.1:c.11754A>T	XP_016878184.1:p.Gly3918=
XM_017022696.1:c.11754A>T	XP_016878185.1:p.Gly3918=
XM_017022697.1:c.5034A>T	XP_016878186.1:p.Gly1678=
XM_017022698.1:c.5034A>T	XP_016878187.1:p.Gly1678=
NM_004667.6:c.11868A>T MANE Select	NP_004658.3:p.Gly3956=