Canonical Allele Identifier: CA2575098402

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559266T>A , CM000674.2:g.21559266T>A	GRCh38
NC_000012.11:g.21712200T>A , CM000674.1:g.21712200T>A	GRCh37
NC_000012.10:g.21603467T>A	NCBI36
NG_016167.1:g.50582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-97A>T MANE Select	ENSP00000261195.2:n.1230-97A>T
ENST00000647960.1:c.*1232-97A>T	ENSP00000497202.1:n.*1232-97A>T
ENST00000648372.1:n.1157-97A>T
ENST00000261195.2:c.1230-97A>T	ENSP00000261195.2:n.1230-97A>T
NM_021957.3:c.1230-97A>T	NP_068776.2:n.1230-97A>T
XM_005253352.1:c.1230-97A>T	XP_005253409.1:n.1230-97A>T
XM_005253354.2:c.1011-97A>T	XP_005253411.1:n.1011-97A>T
XM_006719062.2:c.1230-97A>T	XP_006719125.1:n.1230-97A>T
XM_006719063.2:c.999-97A>T	XP_006719126.1:n.999-97A>T
NM_021957.4:c.1230-97A>T MANE Select	NP_068776.2:n.1230-97A>T
XM_006719063.3:c.999-97A>T	XP_006719126.1:n.999-97A>T
XM_024448960.1:c.1230-97A>T	XP_024304728.1:n.1230-97A>T