Canonical Allele Identifier: CA686414427

Gene: GYS2

Linked Data

• dbSNP Id: rs60049724
• gnomAD v3: 12-21562698-C-CAA
• gnomAD v4: 12-21562698-C-CAA
• MyVariant Identifiers: chr12:g.21715632_21715633insAA (hg19) ; chr12:g.21562698_21562699insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562720_21562721dup , CM000674.2:g.21562720_21562721dup	GRCh38
NC_000012.11:g.21715654_21715655dup , CM000674.1:g.21715654_21715655dup	GRCh37
NC_000012.10:g.21606921_21606922dup	NCBI36
NG_016167.1:g.47148_47149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+218_1062+219dup MANE Select	ENSP00000261195.2:n.1062+218_1062+219dup
ENST00000647960.1:c.*1064+218_*1064+219dup	ENSP00000497202.1:n.*1064+218_*1064+219dup
ENST00000648372.1:n.989+218_989+219dup
ENST00000261195.2:c.1062+218_1062+219dup	ENSP00000261195.2:n.1062+218_1062+219dup
NM_021957.3:c.1062+218_1062+219dup	NP_068776.2:n.1062+218_1062+219dup
XM_005253352.1:c.1062+218_1062+219dup	XP_005253409.1:n.1062+218_1062+219dup
XM_005253354.2:c.843+218_843+219dup	XP_005253411.1:n.843+218_843+219dup
XM_006719062.2:c.1062+218_1062+219dup	XP_006719125.1:n.1062+218_1062+219dup
XM_006719063.2:c.831+218_831+219dup	XP_006719126.1:n.831+218_831+219dup
NM_021957.4:c.1062+218_1062+219dup MANE Select	NP_068776.2:n.1062+218_1062+219dup
XM_006719063.3:c.831+218_831+219dup	XP_006719126.1:n.831+218_831+219dup
XM_017019245.2:c.1062+218_1062+219dup	XP_016874734.1:n.1062+218_1062+219dup
XM_024448960.1:c.1062+218_1062+219dup	XP_024304728.1:n.1062+218_1062+219dup