Canonical Allele Identifier: CA267946081

Gene: HERC2

Linked Data

• dbSNP Id: rs746422755
• MyVariant Identifiers: chr15:g.28386650G>A (hg19) ; chr15:g.28141504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141504G>A , CM000677.2:g.28141504G>A	GRCh38
NC_000015.9:g.28386650G>A , CM000677.1:g.28386650G>A	GRCh37
NC_000015.8:g.26060245G>A	NCBI36
NG_016355.1:g.185646C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11943C>T MANE Select	ENSP00000261609.8:p.Ala3981=
ENST00000650509.1:c.3654C>T	ENSP00000496936.1:p.Ala1218=
ENST00000261609.11:c.11943C>T	ENSP00000261609.7:p.Ala3981=
NM_004667.5:c.11943C>T	NP_004658.3:p.Ala3981=
XM_005268276.3:c.11829C>T	XP_005268333.1:p.Ala3943=
XM_005268277.3:c.11829C>T	XP_005268334.1:p.Ala3943=
XM_006720726.2:c.11928C>T	XP_006720789.1:p.Ala3976=
XM_006720727.2:c.11685C>T	XP_006720790.1:p.Ala3895=
XM_011522131.1:c.11460C>T	XP_011520433.1:p.Ala3820=
XM_011522132.1:c.9459C>T	XP_011520434.1:p.Ala3153=
XM_011522133.1:c.8688C>T	XP_011520435.1:p.Ala2896=
XM_011522134.1:c.6060C>T	XP_011520436.1:p.Ala2020=
XM_005268276.5:c.11829C>T	XP_005268333.1:p.Ala3943=
XM_006720726.3:c.11928C>T	XP_006720789.1:p.Ala3976=
XM_006720727.3:c.11685C>T	XP_006720790.1:p.Ala3895=
XM_017022695.1:c.11829C>T	XP_016878184.1:p.Ala3943=
XM_017022696.1:c.11829C>T	XP_016878185.1:p.Ala3943=
XM_017022697.1:c.5109C>T	XP_016878186.1:p.Ala1703=
XM_017022698.1:c.5109C>T	XP_016878187.1:p.Ala1703=
NM_004667.6:c.11943C>T MANE Select	NP_004658.3:p.Ala3981=