Canonical Allele Identifier: CA6480040

Gene: GYS2

Linked Data

• dbSNP Id: rs762375874
• ExAC: 12:21715985 A / AAAACC
• gnomAD v2: 12-21715985-A-AAAACC
• gnomAD v4: 12-21563051-A-AAAACC
• MyVariant Identifiers: chr12:g.21715985_21715986insAAACC (hg19) ; chr12:g.21563051_21563052insAAACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563056_21563060dup , CM000674.2:g.21563056_21563060dup	GRCh38
NC_000012.11:g.21715990_21715994dup , CM000674.1:g.21715990_21715994dup	GRCh37
NC_000012.10:g.21607257_21607261dup	NCBI36
NG_016167.1:g.46792_46796dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-18_942-14dup MANE Select	ENSP00000261195.2:n.942-18_942-14dup
ENST00000647960.1:c.*944-18_*944-14dup	ENSP00000497202.1:n.*944-18_*944-14dup
ENST00000648372.1:n.869-18_869-14dup
ENST00000261195.2:c.942-18_942-14dup	ENSP00000261195.2:n.942-18_942-14dup
NM_021957.3:c.942-18_942-14dup	NP_068776.2:n.942-18_942-14dup
XM_005253352.1:c.942-18_942-14dup	XP_005253409.1:n.942-18_942-14dup
XM_005253354.2:c.723-18_723-14dup	XP_005253411.1:n.723-18_723-14dup
XM_006719062.2:c.942-18_942-14dup	XP_006719125.1:n.942-18_942-14dup
XM_006719063.2:c.711-18_711-14dup	XP_006719126.1:n.711-18_711-14dup
NM_021957.4:c.942-18_942-14dup MANE Select	NP_068776.2:n.942-18_942-14dup
XM_006719063.3:c.711-18_711-14dup	XP_006719126.1:n.711-18_711-14dup
XM_017019245.2:c.942-18_942-14dup	XP_016874734.1:n.942-18_942-14dup
XM_024448960.1:c.942-18_942-14dup	XP_024304728.1:n.942-18_942-14dup