Canonical Allele Identifier: CA945499980

Gene: GYS2

Linked Data

• dbSNP Id: rs1944269269
• gnomAD v3: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAGAAAATA
• gnomAD v4: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAGAAAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562719_21562720insGAAAATAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.21562719_21562720insGAAAATAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.21715653_21715654insGAAAATAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.21715653_21715654insGAAAATAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.21606920_21606921insGAAAATAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_016167.1:g.47149_47150insTATTTTCTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000261195.2:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTT...
ENST00000647960.1:c.*1064+219_*1064+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	ENSP00000497202.1:n.*1064+219_*1064+220insTATTTTCTTTTTTTTTTTT...
ENST00000648372.1:n.989+219_989+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT
ENST00000261195.2:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	ENSP00000261195.2:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTT...
NM_021957.3:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	NP_068776.2:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTT...
XM_005253352.1:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_005253409.1:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTT...
XM_005253354.2:c.843+219_843+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_005253411.1:n.843+219_843+220insTATTTTCTTTTTTTTTTTTTTTTTTT...
XM_006719062.2:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_006719125.1:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTT...
XM_006719063.2:c.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_006719126.1:n.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTT...
NM_021957.4:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_068776.2:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTT...
XM_006719063.3:c.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_006719126.1:n.831+219_831+220insTATTTTCTTTTTTTTTTTTTTTTTTT...
XM_017019245.2:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_016874734.1:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTT...
XM_024448960.1:c.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTTTTTT	XP_024304728.1:n.1062+219_1062+220insTATTTTCTTTTTTTTTTTTTTTTT...