Canonical Allele Identifier: CA603675417

Gene: GYS2

Linked Data

• dbSNP Id: rs1327288244
• gnomAD v2: 12-21715653-AAAGAT-A
• gnomAD v3: 12-21562719-AAAGAT-A
• gnomAD v4: 12-21562719-AAAGAT-A
• MyVariant Identifiers: chr12:g.21715654_21715658del (hg19) ; chr12:g.21562720_21562724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562720_21562724del , CM000674.2:g.21562720_21562724del	GRCh38
NC_000012.11:g.21715654_21715658del , CM000674.1:g.21715654_21715658del	GRCh37
NC_000012.10:g.21606921_21606925del	NCBI36
NG_016167.1:g.47124_47128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+194_1062+198del MANE Select	ENSP00000261195.2:n.1062+194_1062+198del
ENST00000647960.1:c.*1064+194_*1064+198del	ENSP00000497202.1:n.*1064+194_*1064+198del
ENST00000648372.1:n.989+194_989+198del
ENST00000261195.2:c.1062+194_1062+198del	ENSP00000261195.2:n.1062+194_1062+198del
NM_021957.3:c.1062+194_1062+198del	NP_068776.2:n.1062+194_1062+198del
XM_005253352.1:c.1062+194_1062+198del	XP_005253409.1:n.1062+194_1062+198del
XM_005253354.2:c.843+194_843+198del	XP_005253411.1:n.843+194_843+198del
XM_006719062.2:c.1062+194_1062+198del	XP_006719125.1:n.1062+194_1062+198del
XM_006719063.2:c.831+194_831+198del	XP_006719126.1:n.831+194_831+198del
NM_021957.4:c.1062+194_1062+198del MANE Select	NP_068776.2:n.1062+194_1062+198del
XM_006719063.3:c.831+194_831+198del	XP_006719126.1:n.831+194_831+198del
XM_017019245.2:c.1062+194_1062+198del	XP_016874734.1:n.1062+194_1062+198del
XM_024448960.1:c.1062+194_1062+198del	XP_024304728.1:n.1062+194_1062+198del