Canonical Allele Identifier: CA2617923668

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563136-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563138_21563139del , CM000674.2:g.21563138_21563139del	GRCh38
NC_000012.11:g.21716072_21716073del , CM000674.1:g.21716072_21716073del	GRCh37
NC_000012.10:g.21607339_21607340del	NCBI36
NG_016167.1:g.46710_46711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+90_941+91del MANE Select	ENSP00000261195.2:n.941+90_941+91del
ENST00000647960.1:c.*943+90_*943+91del	ENSP00000497202.1:n.*943+90_*943+91del
ENST00000648372.1:n.868+90_868+91del
ENST00000261195.2:c.941+90_941+91del	ENSP00000261195.2:n.941+90_941+91del
NM_021957.3:c.941+90_941+91del	NP_068776.2:n.941+90_941+91del
XM_005253352.1:c.941+90_941+91del	XP_005253409.1:n.941+90_941+91del
XM_005253354.2:c.722+90_722+91del	XP_005253411.1:n.722+90_722+91del
XM_006719062.2:c.941+90_941+91del	XP_006719125.1:n.941+90_941+91del
XM_006719063.2:c.710+90_710+91del	XP_006719126.1:n.710+90_710+91del
NM_021957.4:c.941+90_941+91del MANE Select	NP_068776.2:n.941+90_941+91del
XM_006719063.3:c.710+90_710+91del	XP_006719126.1:n.710+90_710+91del
XM_017019245.2:c.941+90_941+91del	XP_016874734.1:n.941+90_941+91del
XM_024448960.1:c.941+90_941+91del	XP_024304728.1:n.941+90_941+91del