Canonical Allele Identifier: CA16606565

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21542587T>C , CM000674.2:g.21542587T>C	GRCh38
NC_000012.11:g.21695521T>C , CM000674.1:g.21695521T>C	GRCh37
NC_000012.10:g.21586788T>C	NCBI36
NG_016167.1:g.67261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1554A>G MANE Select	ENSP00000261195.2:p.Glu518=
ENST00000647960.1:c.*1556A>G	ENSP00000497202.1:n.*1556A>G
ENST00000261195.2:c.1554A>G	ENSP00000261195.2:p.Glu518=
NM_021957.3:c.1554A>G	NP_068776.2:p.Glu518=
XM_005253352.1:c.1554A>G	XP_005253409.1:p.Glu518=
XM_005253354.2:c.1335A>G	XP_005253411.1:p.Glu445=
XM_006719062.2:c.1554A>G	XP_006719125.1:p.Glu518=
XM_006719063.2:c.1323A>G	XP_006719126.1:p.Glu441=
NM_021957.4:c.1554A>G MANE Select	NP_068776.2:p.Glu518=
XM_006719063.3:c.1323A>G	XP_006719126.1:p.Glu441=
XM_024448960.1:c.1554A>G	XP_024304728.1:p.Glu518=