Canonical Allele Identifier: CA2021178495

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562638_21562646delinsTAGAAGGGG , CM000674.2:g.21562638_21562646delinsTAGAAGGGG	GRCh38
NC_000012.11:g.21715572_21715580delinsTAGAAGGGG , CM000674.1:g.21715572_21715580delinsTAGAAGGGG	GRCh37
NC_000012.10:g.21606839_21606847delinsTAGAAGGGG	NCBI36
NG_016167.1:g.47202_47210delinsCCCCTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+272_1062+280delinsCCCCTTCTA MANE Select	ENSP00000261195.2:n.1062+272_1062+280delinsCCCCTTCTA
ENST00000647960.1:c.*1064+272_*1064+280delinsCCCCTTCTA	ENSP00000497202.1:n.*1064+272_*1064+280delinsCCCCTTCTA
ENST00000648372.1:n.989+272_989+280delinsCCCCTTCTA
ENST00000261195.2:c.1062+272_1062+280delinsCCCCTTCTA	ENSP00000261195.2:n.1062+272_1062+280delinsCCCCTTCTA
NM_021957.3:c.1062+272_1062+280delinsCCCCTTCTA	NP_068776.2:n.1062+272_1062+280delinsCCCCTTCTA
XM_005253352.1:c.1062+272_1062+280delinsCCCCTTCTA	XP_005253409.1:n.1062+272_1062+280delinsCCCCTTCTA
XM_005253354.2:c.843+272_843+280delinsCCCCTTCTA	XP_005253411.1:n.843+272_843+280delinsCCCCTTCTA
XM_006719062.2:c.1062+272_1062+280delinsCCCCTTCTA	XP_006719125.1:n.1062+272_1062+280delinsCCCCTTCTA
XM_006719063.2:c.831+272_831+280delinsCCCCTTCTA	XP_006719126.1:n.831+272_831+280delinsCCCCTTCTA
NM_021957.4:c.1062+272_1062+280delinsCCCCTTCTA MANE Select	NP_068776.2:n.1062+272_1062+280delinsCCCCTTCTA
XM_006719063.3:c.831+272_831+280delinsCCCCTTCTA	XP_006719126.1:n.831+272_831+280delinsCCCCTTCTA
XM_017019245.2:c.1062+272_1062+280delinsCCCCTTCTA	XP_016874734.1:n.1062+272_1062+280delinsCCCCTTCTA
XM_024448960.1:c.1062+272_1062+280delinsCCCCTTCTA	XP_024304728.1:n.1062+272_1062+280delinsCCCCTTCTA