Canonical Allele Identifier: CA2021178544

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562697_21562703delinsCCAAAAA , CM000674.2:g.21562697_21562703delinsCCAAAAA	GRCh38
NC_000012.11:g.21715631_21715637delinsCCAAAAA , CM000674.1:g.21715631_21715637delinsCCAAAAA	GRCh37
NC_000012.10:g.21606898_21606904delinsCCAAAAA	NCBI36
NG_016167.1:g.47145_47151delinsTTTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+215_1062+221delinsTTTTTGG MANE Select	ENSP00000261195.2:n.1062+215_1062+221delinsTTTTTGG
ENST00000647960.1:c.*1064+215_*1064+221delinsTTTTTGG	ENSP00000497202.1:n.*1064+215_*1064+221delinsTTTTTGG
ENST00000648372.1:n.989+215_989+221delinsTTTTTGG
ENST00000261195.2:c.1062+215_1062+221delinsTTTTTGG	ENSP00000261195.2:n.1062+215_1062+221delinsTTTTTGG
NM_021957.3:c.1062+215_1062+221delinsTTTTTGG	NP_068776.2:n.1062+215_1062+221delinsTTTTTGG
XM_005253352.1:c.1062+215_1062+221delinsTTTTTGG	XP_005253409.1:n.1062+215_1062+221delinsTTTTTGG
XM_005253354.2:c.843+215_843+221delinsTTTTTGG	XP_005253411.1:n.843+215_843+221delinsTTTTTGG
XM_006719062.2:c.1062+215_1062+221delinsTTTTTGG	XP_006719125.1:n.1062+215_1062+221delinsTTTTTGG
XM_006719063.2:c.831+215_831+221delinsTTTTTGG	XP_006719126.1:n.831+215_831+221delinsTTTTTGG
NM_021957.4:c.1062+215_1062+221delinsTTTTTGG MANE Select	NP_068776.2:n.1062+215_1062+221delinsTTTTTGG
XM_006719063.3:c.831+215_831+221delinsTTTTTGG	XP_006719126.1:n.831+215_831+221delinsTTTTTGG
XM_017019245.2:c.1062+215_1062+221delinsTTTTTGG	XP_016874734.1:n.1062+215_1062+221delinsTTTTTGG
XM_024448960.1:c.1062+215_1062+221delinsTTTTTGG	XP_024304728.1:n.1062+215_1062+221delinsTTTTTGG