Canonical Allele Identifier: CA2021179000

Gene: GYS2

Linked Data

• dbSNP Id: rs1944274829
• gnomAD v4: 12-21563055-CCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563058_21563061del , CM000674.2:g.21563058_21563061del	GRCh38
NC_000012.11:g.21715992_21715995del , CM000674.1:g.21715992_21715995del	GRCh37
NC_000012.10:g.21607259_21607262del	NCBI36
NG_016167.1:g.46789_46792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-21_942-18del MANE Select	ENSP00000261195.2:n.942-21_942-18del
ENST00000647960.1:c.*944-21_*944-18del	ENSP00000497202.1:n.*944-21_*944-18del
ENST00000648372.1:n.869-21_869-18del
ENST00000261195.2:c.942-21_942-18del	ENSP00000261195.2:n.942-21_942-18del
NM_021957.3:c.942-21_942-18del	NP_068776.2:n.942-21_942-18del
XM_005253352.1:c.942-21_942-18del	XP_005253409.1:n.942-21_942-18del
XM_005253354.2:c.723-21_723-18del	XP_005253411.1:n.723-21_723-18del
XM_006719062.2:c.942-21_942-18del	XP_006719125.1:n.942-21_942-18del
XM_006719063.2:c.711-21_711-18del	XP_006719126.1:n.711-21_711-18del
NM_021957.4:c.942-21_942-18del MANE Select	NP_068776.2:n.942-21_942-18del
XM_006719063.3:c.711-21_711-18del	XP_006719126.1:n.711-21_711-18del
XM_017019245.2:c.942-21_942-18del	XP_016874734.1:n.942-21_942-18del
XM_024448960.1:c.942-21_942-18del	XP_024304728.1:n.942-21_942-18del