Canonical Allele Identifier: CA2725947027

Gene: GYS2

Linked Data

• dbSNP Id: rs2136882381

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562995_21562997del , CM000674.2:g.21562995_21562997del	GRCh38
NC_000012.11:g.21715929_21715931del , CM000674.1:g.21715929_21715931del	GRCh37
NC_000012.10:g.21607196_21607198del	NCBI36
NG_016167.1:g.46851_46853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.983_985del MANE Select	ENSP00000261195.2:p.Ile328_Ala329delinsThr
ENST00000647960.1:c.*985_*987del	ENSP00000497202.1:n.*985_*987del
ENST00000648372.1:n.910_912del
ENST00000261195.2:c.983_985del	ENSP00000261195.2:p.Ile328_Ala329delinsThr
NM_021957.3:c.983_985del	NP_068776.2:p.Ile328_Ala329delinsThr
XM_005253352.1:c.983_985del	XP_005253409.1:p.Ile328_Ala329delinsThr
XM_005253354.2:c.764_766del	XP_005253411.1:p.Ile255_Ala256delinsThr
XM_006719062.2:c.983_985del	XP_006719125.1:p.Ile328_Ala329delinsThr
XM_006719063.2:c.752_754del	XP_006719126.1:p.Ile251_Ala252delinsThr
NM_021957.4:c.983_985del MANE Select	NP_068776.2:p.Ile328_Ala329delinsThr
XM_006719063.3:c.752_754del	XP_006719126.1:p.Ile251_Ala252delinsThr
XM_017019245.2:c.983_985del	XP_016874734.1:p.Ile328_Ala329delinsThr
XM_024448960.1:c.983_985del	XP_024304728.1:p.Ile328_Ala329delinsThr