Canonical Allele Identifier: CA2617923579

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562865-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562866dup , CM000674.2:g.21562866dup	GRCh38
NC_000012.11:g.21715800dup , CM000674.1:g.21715800dup	GRCh37
NC_000012.10:g.21607067dup	NCBI36
NG_016167.1:g.46982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+52dup MANE Select	ENSP00000261195.2:n.1062+52dup
ENST00000647960.1:c.*1064+52dup	ENSP00000497202.1:n.*1064+52dup
ENST00000648372.1:n.989+52dup
ENST00000261195.2:c.1062+52dup	ENSP00000261195.2:n.1062+52dup
NM_021957.3:c.1062+52dup	NP_068776.2:n.1062+52dup
XM_005253352.1:c.1062+52dup	XP_005253409.1:n.1062+52dup
XM_005253354.2:c.843+52dup	XP_005253411.1:n.843+52dup
XM_006719062.2:c.1062+52dup	XP_006719125.1:n.1062+52dup
XM_006719063.2:c.831+52dup	XP_006719126.1:n.831+52dup
NM_021957.4:c.1062+52dup MANE Select	NP_068776.2:n.1062+52dup
XM_006719063.3:c.831+52dup	XP_006719126.1:n.831+52dup
XM_017019245.2:c.1062+52dup	XP_016874734.1:n.1062+52dup
XM_024448960.1:c.1062+52dup	XP_024304728.1:n.1062+52dup