Canonical Allele Identifier: CA291153

Gene: GYS2 SPX

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21537012A>G , CM000674.2:g.21537012A>G	GRCh38
NC_000012.11:g.21689946A>G , CM000674.1:g.21689946A>G	GRCh37
NC_000012.10:g.21581213A>G	NCBI36
NG_016167.1:g.72836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.2054T>C (GYS2) MANE Select	ENSP00000261195.2:p.Phe685Ser
ENST00000647960.1:c.*2056T>C	ENSP00000497202.1:n.*2056T>C
ENST00000649016.1:n.529-34A>G (SPX)
ENST00000261195.2:c.2054T>C (GYS2)	ENSP00000261195.2:p.Phe685Ser
ENST00000537527.1:n.472-34A>G (SPX)
NM_021957.3:c.2054T>C (GYS2)	NP_068776.2:p.Phe685Ser
XM_005253352.1:c.2054T>C (GYS2)	XP_005253409.1:p.Phe685Ser
XM_005253354.2:c.1835T>C (GYS2)	XP_005253411.1:p.Phe612Ser
XM_006719062.2:c.2054T>C (GYS2)	XP_006719125.1:p.Phe685Ser
XM_006719063.2:c.1823T>C (GYS2)	XP_006719126.1:p.Phe608Ser
NM_021957.4:c.2054T>C (GYS2) MANE Select	NP_068776.2:p.Phe685Ser
XM_006719063.3:c.1823T>C (GYS2)	XP_006719126.1:p.Phe608Ser
XM_024448960.1:c.2054T>C (GYS2)	XP_024304728.1:p.Phe685Ser