Canonical Allele Identifier: CA2021178546

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562697_21562702delinsCCAAAA , CM000674.2:g.21562697_21562702delinsCCAAAA	GRCh38
NC_000012.11:g.21715631_21715636delinsCCAAAA , CM000674.1:g.21715631_21715636delinsCCAAAA	GRCh37
NC_000012.10:g.21606898_21606903delinsCCAAAA	NCBI36
NG_016167.1:g.47146_47151delinsTTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+216_1062+221delinsTTTTGG MANE Select	ENSP00000261195.2:n.1062+216_1062+221delinsTTTTGG
ENST00000647960.1:c.*1064+216_*1064+221delinsTTTTGG	ENSP00000497202.1:n.*1064+216_*1064+221delinsTTTTGG
ENST00000648372.1:n.989+216_989+221delinsTTTTGG
ENST00000261195.2:c.1062+216_1062+221delinsTTTTGG	ENSP00000261195.2:n.1062+216_1062+221delinsTTTTGG
NM_021957.3:c.1062+216_1062+221delinsTTTTGG	NP_068776.2:n.1062+216_1062+221delinsTTTTGG
XM_005253352.1:c.1062+216_1062+221delinsTTTTGG	XP_005253409.1:n.1062+216_1062+221delinsTTTTGG
XM_005253354.2:c.843+216_843+221delinsTTTTGG	XP_005253411.1:n.843+216_843+221delinsTTTTGG
XM_006719062.2:c.1062+216_1062+221delinsTTTTGG	XP_006719125.1:n.1062+216_1062+221delinsTTTTGG
XM_006719063.2:c.831+216_831+221delinsTTTTGG	XP_006719126.1:n.831+216_831+221delinsTTTTGG
NM_021957.4:c.1062+216_1062+221delinsTTTTGG MANE Select	NP_068776.2:n.1062+216_1062+221delinsTTTTGG
XM_006719063.3:c.831+216_831+221delinsTTTTGG	XP_006719126.1:n.831+216_831+221delinsTTTTGG
XM_017019245.2:c.1062+216_1062+221delinsTTTTGG	XP_016874734.1:n.1062+216_1062+221delinsTTTTGG
XM_024448960.1:c.1062+216_1062+221delinsTTTTGG	XP_024304728.1:n.1062+216_1062+221delinsTTTTGG