Canonical Allele Identifier: CA2021178505

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562646_21562649delinsGAGA , CM000674.2:g.21562646_21562649delinsGAGA	GRCh38
NC_000012.11:g.21715580_21715583delinsGAGA , CM000674.1:g.21715580_21715583delinsGAGA	GRCh37
NC_000012.10:g.21606847_21606850delinsGAGA	NCBI36
NG_016167.1:g.47199_47202delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+269_1062+272delinsTCTC MANE Select	ENSP00000261195.2:n.1062+269_1062+272delinsTCTC
ENST00000647960.1:c.*1064+269_*1064+272delinsTCTC	ENSP00000497202.1:n.*1064+269_*1064+272delinsTCTC
ENST00000648372.1:n.989+269_989+272delinsTCTC
ENST00000261195.2:c.1062+269_1062+272delinsTCTC	ENSP00000261195.2:n.1062+269_1062+272delinsTCTC
NM_021957.3:c.1062+269_1062+272delinsTCTC	NP_068776.2:n.1062+269_1062+272delinsTCTC
XM_005253352.1:c.1062+269_1062+272delinsTCTC	XP_005253409.1:n.1062+269_1062+272delinsTCTC
XM_005253354.2:c.843+269_843+272delinsTCTC	XP_005253411.1:n.843+269_843+272delinsTCTC
XM_006719062.2:c.1062+269_1062+272delinsTCTC	XP_006719125.1:n.1062+269_1062+272delinsTCTC
XM_006719063.2:c.831+269_831+272delinsTCTC	XP_006719126.1:n.831+269_831+272delinsTCTC
NM_021957.4:c.1062+269_1062+272delinsTCTC MANE Select	NP_068776.2:n.1062+269_1062+272delinsTCTC
XM_006719063.3:c.831+269_831+272delinsTCTC	XP_006719126.1:n.831+269_831+272delinsTCTC
XM_017019245.2:c.1062+269_1062+272delinsTCTC	XP_016874734.1:n.1062+269_1062+272delinsTCTC
XM_024448960.1:c.1062+269_1062+272delinsTCTC	XP_024304728.1:n.1062+269_1062+272delinsTCTC