Canonical Allele Identifier: CA2617923649

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563112-T-TACAGTTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563113_21563114insCAGTTTCAA , CM000674.2:g.21563113_21563114insCAGTTTCAA	GRCh38
NC_000012.11:g.21716047_21716048insCAGTTTCAA , CM000674.1:g.21716047_21716048insCAGTTTCAA	GRCh37
NC_000012.10:g.21607314_21607315insCAGTTTCAA	NCBI36
NG_016167.1:g.46735_46736insTGAAACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-75_942-74insTGAAACTGT MANE Select	ENSP00000261195.2:n.942-75_942-74insTGAAACTGT
ENST00000647960.1:c.*944-75_*944-74insTGAAACTGT	ENSP00000497202.1:n.*944-75_*944-74insTGAAACTGT
ENST00000648372.1:n.869-75_869-74insTGAAACTGT
ENST00000261195.2:c.942-75_942-74insTGAAACTGT	ENSP00000261195.2:n.942-75_942-74insTGAAACTGT
NM_021957.3:c.942-75_942-74insTGAAACTGT	NP_068776.2:n.942-75_942-74insTGAAACTGT
XM_005253352.1:c.942-75_942-74insTGAAACTGT	XP_005253409.1:n.942-75_942-74insTGAAACTGT
XM_005253354.2:c.723-75_723-74insTGAAACTGT	XP_005253411.1:n.723-75_723-74insTGAAACTGT
XM_006719062.2:c.942-75_942-74insTGAAACTGT	XP_006719125.1:n.942-75_942-74insTGAAACTGT
XM_006719063.2:c.711-75_711-74insTGAAACTGT	XP_006719126.1:n.711-75_711-74insTGAAACTGT
NM_021957.4:c.942-75_942-74insTGAAACTGT MANE Select	NP_068776.2:n.942-75_942-74insTGAAACTGT
XM_006719063.3:c.711-75_711-74insTGAAACTGT	XP_006719126.1:n.711-75_711-74insTGAAACTGT
XM_017019245.2:c.942-75_942-74insTGAAACTGT	XP_016874734.1:n.942-75_942-74insTGAAACTGT
XM_024448960.1:c.942-75_942-74insTGAAACTGT	XP_024304728.1:n.942-75_942-74insTGAAACTGT