Canonical Allele Identifier: CA945499709

Gene: GYS2

Linked Data

• gnomAD v3: 12-21562651-TGG-T
• gnomAD v4: 12-21562651-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562653_21562654del , CM000674.2:g.21562653_21562654del	GRCh38
NC_000012.11:g.21715587_21715588del , CM000674.1:g.21715587_21715588del	GRCh37
NC_000012.10:g.21606854_21606855del	NCBI36
NG_016167.1:g.47195_47196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+265_1062+266del MANE Select	ENSP00000261195.2:n.1062+265_1062+266del
ENST00000647960.1:c.*1064+265_*1064+266del	ENSP00000497202.1:n.*1064+265_*1064+266del
ENST00000648372.1:n.989+265_989+266del
ENST00000261195.2:c.1062+265_1062+266del	ENSP00000261195.2:n.1062+265_1062+266del
NM_021957.3:c.1062+265_1062+266del	NP_068776.2:n.1062+265_1062+266del
XM_005253352.1:c.1062+265_1062+266del	XP_005253409.1:n.1062+265_1062+266del
XM_005253354.2:c.843+265_843+266del	XP_005253411.1:n.843+265_843+266del
XM_006719062.2:c.1062+265_1062+266del	XP_006719125.1:n.1062+265_1062+266del
XM_006719063.2:c.831+265_831+266del	XP_006719126.1:n.831+265_831+266del
NM_021957.4:c.1062+265_1062+266del MANE Select	NP_068776.2:n.1062+265_1062+266del
XM_006719063.3:c.831+265_831+266del	XP_006719126.1:n.831+265_831+266del
XM_017019245.2:c.1062+265_1062+266del	XP_016874734.1:n.1062+265_1062+266del
XM_024448960.1:c.1062+265_1062+266del	XP_024304728.1:n.1062+265_1062+266del