Canonical Allele Identifier: CA2725946674
Gene: GYS2 HGNC NCBI

Linked Data

dbSNP Id: rs2136881752

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21562724_21562727del , CM000674.2:g.21562724_21562727del GRCh38
NC_000012.11:g.21715658_21715661del , CM000674.1:g.21715658_21715661del GRCh37
NC_000012.10:g.21606925_21606928del NCBI36
NG_016167.1:g.47121_47124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261195.3:c.1062+191_1062+194del MANE Select ENSP00000261195.2:n.1062+191_1062+194del
ENST00000647960.1:c.*1064+191_*1064+194del ENSP00000497202.1:n.*1064+191_*1064+194del
ENST00000648372.1:n.989+191_989+194del
ENST00000261195.2:c.1062+191_1062+194del ENSP00000261195.2:n.1062+191_1062+194del
NM_021957.3:c.1062+191_1062+194del NP_068776.2:n.1062+191_1062+194del
XM_005253352.1:c.1062+191_1062+194del XP_005253409.1:n.1062+191_1062+194del
XM_005253354.2:c.843+191_843+194del XP_005253411.1:n.843+191_843+194del
XM_006719062.2:c.1062+191_1062+194del XP_006719125.1:n.1062+191_1062+194del
XM_006719063.2:c.831+191_831+194del XP_006719126.1:n.831+191_831+194del
NM_021957.4:c.1062+191_1062+194del MANE Select NP_068776.2:n.1062+191_1062+194del
XM_006719063.3:c.831+191_831+194del XP_006719126.1:n.831+191_831+194del
XM_017019245.2:c.1062+191_1062+194del XP_016874734.1:n.1062+191_1062+194del
XM_024448960.1:c.1062+191_1062+194del XP_024304728.1:n.1062+191_1062+194del