Canonical Allele Identifier: CA6479721

Gene: GYS2 SPX

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21540518C>T , CM000674.2:g.21540518C>T	GRCh38
NC_000012.11:g.21693452C>T , CM000674.1:g.21693452C>T	GRCh37
NC_000012.10:g.21584719C>T	NCBI36
NG_016167.1:g.69330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1701G>A (GYS2) MANE Select	ENSP00000261195.2:p.Leu567=
ENST00000647960.1:c.*1703G>A	ENSP00000497202.1:n.*1703G>A
ENST00000649016.1:n.4001C>T (SPX)
ENST00000261195.2:c.1701G>A (GYS2)	ENSP00000261195.2:p.Leu567=
NM_021957.3:c.1701G>A (GYS2)	NP_068776.2:p.Leu567=
XM_005253352.1:c.1701G>A (GYS2)	XP_005253409.1:p.Leu567=
XM_005253354.2:c.1482G>A (GYS2)	XP_005253411.1:p.Leu494=
XM_006719062.2:c.1701G>A (GYS2)	XP_006719125.1:p.Leu567=
XM_006719063.2:c.1470G>A (GYS2)	XP_006719126.1:p.Leu490=
NM_021957.4:c.1701G>A (GYS2) MANE Select	NP_068776.2:p.Leu567=
XM_006719063.3:c.1470G>A (GYS2)	XP_006719126.1:p.Leu490=
XM_024448960.1:c.1701G>A (GYS2)	XP_024304728.1:p.Leu567=