Canonical Allele Identifier: CA6479650

Gene: GYS2 SPX

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21537167T>C , CM000674.2:g.21537167T>C	GRCh38
NC_000012.11:g.21690101T>C , CM000674.1:g.21690101T>C	GRCh37
NC_000012.10:g.21581368T>C	NCBI36
NG_016167.1:g.72681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1899A>G (GYS2) MANE Select	ENSP00000261195.2:p.Gly633=
ENST00000647960.1:c.*1901A>G	ENSP00000497202.1:n.*1901A>G
ENST00000649016.1:n.650T>C (SPX)
ENST00000261195.2:c.1899A>G (GYS2)	ENSP00000261195.2:p.Gly633=
ENST00000537527.1:n.593T>C (SPX)
NM_021957.3:c.1899A>G (GYS2)	NP_068776.2:p.Gly633=
XM_005253352.1:c.1899A>G (GYS2)	XP_005253409.1:p.Gly633=
XM_005253354.2:c.1680A>G (GYS2)	XP_005253411.1:p.Gly560=
XM_006719062.2:c.1899A>G (GYS2)	XP_006719125.1:p.Gly633=
XM_006719063.2:c.1668A>G (GYS2)	XP_006719126.1:p.Gly556=
NM_021957.4:c.1899A>G (GYS2) MANE Select	NP_068776.2:p.Gly633=
XM_006719063.3:c.1668A>G (GYS2)	XP_006719126.1:p.Gly556=
XM_024448960.1:c.1899A>G (GYS2)	XP_024304728.1:p.Gly633=