Canonical Allele Identifier: CA2575098464

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563040-T-TAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563051_21563055dup , CM000674.2:g.21563051_21563055dup	GRCh38
NC_000012.11:g.21715985_21715989dup , CM000674.1:g.21715985_21715989dup	GRCh37
NC_000012.10:g.21607252_21607256dup	NCBI36
NG_016167.1:g.46803_46807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-7_942-3dup MANE Select	ENSP00000261195.2:n.942-7_942-3dup
ENST00000647960.1:c.*944-7_*944-3dup	ENSP00000497202.1:n.*944-7_*944-3dup
ENST00000648372.1:n.869-7_869-3dup
ENST00000261195.2:c.942-7_942-3dup	ENSP00000261195.2:n.942-7_942-3dup
NM_021957.3:c.942-7_942-3dup	NP_068776.2:n.942-7_942-3dup
XM_005253352.1:c.942-7_942-3dup	XP_005253409.1:n.942-7_942-3dup
XM_005253354.2:c.723-7_723-3dup	XP_005253411.1:n.723-7_723-3dup
XM_006719062.2:c.942-7_942-3dup	XP_006719125.1:n.942-7_942-3dup
XM_006719063.2:c.711-7_711-3dup	XP_006719126.1:n.711-7_711-3dup
NM_021957.4:c.942-7_942-3dup MANE Select	NP_068776.2:n.942-7_942-3dup
XM_006719063.3:c.711-7_711-3dup	XP_006719126.1:n.711-7_711-3dup
XM_017019245.2:c.942-7_942-3dup	XP_016874734.1:n.942-7_942-3dup
XM_024448960.1:c.942-7_942-3dup	XP_024304728.1:n.942-7_942-3dup