Canonical Allele Identifier: CA16607189

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21558263G>A , CM000674.2:g.21558263G>A	GRCh38
NC_000012.11:g.21711197G>A , CM000674.1:g.21711197G>A	GRCh37
NC_000012.10:g.21602464G>A	NCBI36
NG_016167.1:g.51585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1359C>T MANE Select	ENSP00000261195.2:p.Thr453=
ENST00000647960.1:c.*1361C>T	ENSP00000497202.1:n.*1361C>T
ENST00000648372.1:n.1286C>T
ENST00000261195.2:c.1359C>T	ENSP00000261195.2:p.Thr453=
NM_021957.3:c.1359C>T	NP_068776.2:p.Thr453=
XM_005253352.1:c.1359C>T	XP_005253409.1:p.Thr453=
XM_005253354.2:c.1140C>T	XP_005253411.1:p.Thr380=
XM_006719062.2:c.1359C>T	XP_006719125.1:p.Thr453=
XM_006719063.2:c.1128C>T	XP_006719126.1:p.Thr376=
NM_021957.4:c.1359C>T MANE Select	NP_068776.2:p.Thr453=
XM_006719063.3:c.1128C>T	XP_006719126.1:p.Thr376=
XM_024448960.1:c.1359C>T	XP_024304728.1:p.Thr453=