Canonical Allele Identifier: CA686414424

Gene: GYS2

Linked Data

• dbSNP Id: rs60049724
• gnomAD v3: 12-21562698-CAAAAAAAAAAAAAA-C
• gnomAD v4: 12-21562698-CAAAAAAAAAAAAAA-C
• MyVariant Identifiers: chr12:g.21715633_21715646del (hg19) ; chr12:g.21562699_21562712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562708_21562721del , CM000674.2:g.21562708_21562721del	GRCh38
NC_000012.11:g.21715642_21715655del , CM000674.1:g.21715642_21715655del	GRCh37
NC_000012.10:g.21606909_21606922del	NCBI36
NG_016167.1:g.47136_47149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+206_1062+219del MANE Select	ENSP00000261195.2:n.1062+206_1062+219del
ENST00000647960.1:c.*1064+206_*1064+219del	ENSP00000497202.1:n.*1064+206_*1064+219del
ENST00000648372.1:n.989+206_989+219del
ENST00000261195.2:c.1062+206_1062+219del	ENSP00000261195.2:n.1062+206_1062+219del
NM_021957.3:c.1062+206_1062+219del	NP_068776.2:n.1062+206_1062+219del
XM_005253352.1:c.1062+206_1062+219del	XP_005253409.1:n.1062+206_1062+219del
XM_005253354.2:c.843+206_843+219del	XP_005253411.1:n.843+206_843+219del
XM_006719062.2:c.1062+206_1062+219del	XP_006719125.1:n.1062+206_1062+219del
XM_006719063.2:c.831+206_831+219del	XP_006719126.1:n.831+206_831+219del
NM_021957.4:c.1062+206_1062+219del MANE Select	NP_068776.2:n.1062+206_1062+219del
XM_006719063.3:c.831+206_831+219del	XP_006719126.1:n.831+206_831+219del
XM_017019245.2:c.1062+206_1062+219del	XP_016874734.1:n.1062+206_1062+219del
XM_024448960.1:c.1062+206_1062+219del	XP_024304728.1:n.1062+206_1062+219del