Canonical Allele Identifier: CA2021178504

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562643_21562651delinsGGGGAGAAT , CM000674.2:g.21562643_21562651delinsGGGGAGAAT	GRCh38
NC_000012.11:g.21715577_21715585delinsGGGGAGAAT , CM000674.1:g.21715577_21715585delinsGGGGAGAAT	GRCh37
NC_000012.10:g.21606844_21606852delinsGGGGAGAAT	NCBI36
NG_016167.1:g.47197_47205delinsATTCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+267_1062+275delinsATTCTCCCC MANE Select	ENSP00000261195.2:n.1062+267_1062+275delinsATTCTCCCC
ENST00000647960.1:c.*1064+267_*1064+275delinsATTCTCCCC	ENSP00000497202.1:n.*1064+267_*1064+275delinsATTCTCCCC
ENST00000648372.1:n.989+267_989+275delinsATTCTCCCC
ENST00000261195.2:c.1062+267_1062+275delinsATTCTCCCC	ENSP00000261195.2:n.1062+267_1062+275delinsATTCTCCCC
NM_021957.3:c.1062+267_1062+275delinsATTCTCCCC	NP_068776.2:n.1062+267_1062+275delinsATTCTCCCC
XM_005253352.1:c.1062+267_1062+275delinsATTCTCCCC	XP_005253409.1:n.1062+267_1062+275delinsATTCTCCCC
XM_005253354.2:c.843+267_843+275delinsATTCTCCCC	XP_005253411.1:n.843+267_843+275delinsATTCTCCCC
XM_006719062.2:c.1062+267_1062+275delinsATTCTCCCC	XP_006719125.1:n.1062+267_1062+275delinsATTCTCCCC
XM_006719063.2:c.831+267_831+275delinsATTCTCCCC	XP_006719126.1:n.831+267_831+275delinsATTCTCCCC
NM_021957.4:c.1062+267_1062+275delinsATTCTCCCC MANE Select	NP_068776.2:n.1062+267_1062+275delinsATTCTCCCC
XM_006719063.3:c.831+267_831+275delinsATTCTCCCC	XP_006719126.1:n.831+267_831+275delinsATTCTCCCC
XM_017019245.2:c.1062+267_1062+275delinsATTCTCCCC	XP_016874734.1:n.1062+267_1062+275delinsATTCTCCCC
XM_024448960.1:c.1062+267_1062+275delinsATTCTCCCC	XP_024304728.1:n.1062+267_1062+275delinsATTCTCCCC