Canonical Allele Identifier: CA919039884

Gene: GYS2

Linked Data

• dbSNP Id: rs1565600370
• gnomAD v3: 12-21562697-CCA-C
• gnomAD v4: 12-21562697-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562698_21562699del , CM000674.2:g.21562698_21562699del	GRCh38
NC_000012.11:g.21715632_21715633del , CM000674.1:g.21715632_21715633del	GRCh37
NC_000012.10:g.21606899_21606900del	NCBI36
NG_016167.1:g.47149_47150del

Transcript Alleles

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