Canonical Allele Identifier: CA603675592

Gene: GYS2

Linked Data

• dbSNP Id: rs1452093826
• gnomAD v2: 12-21715974-T-TAAAA
• gnomAD v3: 12-21563040-T-TAAAA
• gnomAD v4: 12-21563040-T-TAAAA
• MyVariant Identifiers: chr12:g.21715979delinsAAAAC (hg19) ; chr12:g.21715974_21715975insAAAA (hg19) ; chr12:g.21563040_21563041insAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563041_21563044dup , CM000674.2:g.21563041_21563044dup	GRCh38
NC_000012.11:g.21715975_21715978dup , CM000674.1:g.21715975_21715978dup	GRCh37
NC_000012.10:g.21607242_21607245dup	NCBI36
NG_016167.1:g.46804_46807dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-6_942-3dup MANE Select	ENSP00000261195.2:n.942-6_942-3dup
ENST00000647960.1:c.*944-6_*944-3dup	ENSP00000497202.1:n.*944-6_*944-3dup
ENST00000648372.1:n.869-6_869-3dup
ENST00000261195.2:c.942-6_942-3dup	ENSP00000261195.2:n.942-6_942-3dup
NM_021957.3:c.942-6_942-3dup	NP_068776.2:n.942-6_942-3dup
XM_005253352.1:c.942-6_942-3dup	XP_005253409.1:n.942-6_942-3dup
XM_005253354.2:c.723-6_723-3dup	XP_005253411.1:n.723-6_723-3dup
XM_006719062.2:c.942-6_942-3dup	XP_006719125.1:n.942-6_942-3dup
XM_006719063.2:c.711-6_711-3dup	XP_006719126.1:n.711-6_711-3dup
NM_021957.4:c.942-6_942-3dup MANE Select	NP_068776.2:n.942-6_942-3dup
XM_006719063.3:c.711-6_711-3dup	XP_006719126.1:n.711-6_711-3dup
XM_017019245.2:c.942-6_942-3dup	XP_016874734.1:n.942-6_942-3dup
XM_024448960.1:c.942-6_942-3dup	XP_024304728.1:n.942-6_942-3dup