Canonical Allele Identifier: CA945500225

Gene: GYS2

Linked Data

• gnomAD v3: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 12-21562698-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.2:g.21562721_21562722insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.21715655_21715656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000674.1:g.21715655_21715656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.21606922_21606923insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_016167.1:g.47149_47150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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