Canonical Allele Identifier: CA2021178548

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562698_21562712delinsCAAAAAAAAAAAAAA , CM000674.2:g.21562698_21562712delinsCAAAAAAAAAAAAAA	GRCh38
NC_000012.11:g.21715632_21715646delinsCAAAAAAAAAAAAAA , CM000674.1:g.21715632_21715646delinsCAAAAAAAAAAAAAA	GRCh37
NC_000012.10:g.21606899_21606913delinsCAAAAAAAAAAAAAA	NCBI36
NG_016167.1:g.47136_47150delinsTTTTTTTTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG MANE Select	ENSP00000261195.2:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
ENST00000647960.1:c.*1064+206_*1064+220delinsTTTTTTTTTTTTTTG	ENSP00000497202.1:n.*1064+206_*1064+220delinsTTTTTTTTTTTTTTG
ENST00000648372.1:n.989+206_989+220delinsTTTTTTTTTTTTTTG
ENST00000261195.2:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	ENSP00000261195.2:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
NM_021957.3:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	NP_068776.2:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
XM_005253352.1:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	XP_005253409.1:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
XM_005253354.2:c.843+206_843+220delinsTTTTTTTTTTTTTTG	XP_005253411.1:n.843+206_843+220delinsTTTTTTTTTTTTTTG
XM_006719062.2:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	XP_006719125.1:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
XM_006719063.2:c.831+206_831+220delinsTTTTTTTTTTTTTTG	XP_006719126.1:n.831+206_831+220delinsTTTTTTTTTTTTTTG
NM_021957.4:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG MANE Select	NP_068776.2:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
XM_006719063.3:c.831+206_831+220delinsTTTTTTTTTTTTTTG	XP_006719126.1:n.831+206_831+220delinsTTTTTTTTTTTTTTG
XM_017019245.2:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	XP_016874734.1:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG
XM_024448960.1:c.1062+206_1062+220delinsTTTTTTTTTTTTTTG	XP_024304728.1:n.1062+206_1062+220delinsTTTTTTTTTTTTTTG