Canonical Allele Identifier: CA686412602

Gene: GYS2

Linked Data

• dbSNP Id: rs1176430869
• gnomAD v3: 12-21559308-C-CATAG
• gnomAD v4: 12-21559308-C-CATAG
• MyVariant Identifiers: chr12:g.21712242_21712243insATAG (hg19) ; chr12:g.21559308_21559309insATAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559310_21559313dup , CM000674.2:g.21559310_21559313dup	GRCh38
NC_000012.11:g.21712244_21712247dup , CM000674.1:g.21712244_21712247dup	GRCh37
NC_000012.10:g.21603511_21603514dup	NCBI36
NG_016167.1:g.50536_50539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-143_1230-140dup MANE Select	ENSP00000261195.2:n.1230-143_1230-140dup
ENST00000647960.1:c.*1232-143_*1232-140dup	ENSP00000497202.1:n.*1232-143_*1232-140dup
ENST00000648372.1:n.1157-143_1157-140dup
ENST00000261195.2:c.1230-143_1230-140dup	ENSP00000261195.2:n.1230-143_1230-140dup
NM_021957.3:c.1230-143_1230-140dup	NP_068776.2:n.1230-143_1230-140dup
XM_005253352.1:c.1230-143_1230-140dup	XP_005253409.1:n.1230-143_1230-140dup
XM_005253354.2:c.1011-143_1011-140dup	XP_005253411.1:n.1011-143_1011-140dup
XM_006719062.2:c.1230-143_1230-140dup	XP_006719125.1:n.1230-143_1230-140dup
XM_006719063.2:c.999-143_999-140dup	XP_006719126.1:n.999-143_999-140dup
NM_021957.4:c.1230-143_1230-140dup MANE Select	NP_068776.2:n.1230-143_1230-140dup
XM_006719063.3:c.999-143_999-140dup	XP_006719126.1:n.999-143_999-140dup
XM_024448960.1:c.1230-143_1230-140dup	XP_024304728.1:n.1230-143_1230-140dup