Canonical Allele Identifier: CA489234771

Gene: HERC2

Linked Data

• dbSNP Id: rs1238422592
• gnomAD v4: 15-28141549-C-T
• MyVariant Identifiers: chr15:g.28386695C>T (hg19) ; chr15:g.28141549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141549C>T , CM000677.2:g.28141549C>T	GRCh38
NC_000015.9:g.28386695C>T , CM000677.1:g.28386695C>T	GRCh37
NC_000015.8:g.26060290C>T	NCBI36
NG_016355.1:g.185601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11898G>A MANE Select	ENSP00000261609.8:p.Gly3966=
ENST00000650509.1:c.3609G>A	ENSP00000496936.1:p.Gly1203=
ENST00000261609.11:c.11898G>A	ENSP00000261609.7:p.Gly3966=
NM_004667.5:c.11898G>A	NP_004658.3:p.Gly3966=
XM_005268276.3:c.11784G>A	XP_005268333.1:p.Gly3928=
XM_005268277.3:c.11784G>A	XP_005268334.1:p.Gly3928=
XM_006720726.2:c.11883G>A	XP_006720789.1:p.Gly3961=
XM_006720727.2:c.11640G>A	XP_006720790.1:p.Gly3880=
XM_011522131.1:c.11415G>A	XP_011520433.1:p.Gly3805=
XM_011522132.1:c.9414G>A	XP_011520434.1:p.Gly3138=
XM_011522133.1:c.8643G>A	XP_011520435.1:p.Gly2881=
XM_011522134.1:c.6015G>A	XP_011520436.1:p.Gly2005=
XM_005268276.5:c.11784G>A	XP_005268333.1:p.Gly3928=
XM_006720726.3:c.11883G>A	XP_006720789.1:p.Gly3961=
XM_006720727.3:c.11640G>A	XP_006720790.1:p.Gly3880=
XM_017022695.1:c.11784G>A	XP_016878184.1:p.Gly3928=
XM_017022696.1:c.11784G>A	XP_016878185.1:p.Gly3928=
XM_017022697.1:c.5064G>A	XP_016878186.1:p.Gly1688=
XM_017022698.1:c.5064G>A	XP_016878187.1:p.Gly1688=
NM_004667.6:c.11898G>A MANE Select	NP_004658.3:p.Gly3966=