Canonical Allele Identifier: CA233603680

Gene: GYS2

Linked Data

• dbSNP Id: rs71539429
• gnomAD v2: 12-21712260-GTACATATTTAA-G
• gnomAD v3: 12-21559326-GTACATATTTAA-G
• gnomAD v4: 12-21559326-GTACATATTTAA-G
• MyVariant Identifiers: chr12:g.21712261_21712271del (hg19) ; chr12:g.21559327_21559337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559331_21559341del , CM000674.2:g.21559331_21559341del	GRCh38
NC_000012.11:g.21712265_21712275del , CM000674.1:g.21712265_21712275del	GRCh37
NC_000012.10:g.21603532_21603542del	NCBI36
NG_016167.1:g.50511_50521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-168_1230-158del MANE Select	ENSP00000261195.2:n.1230-168_1230-158del
ENST00000647960.1:c.*1232-168_*1232-158del	ENSP00000497202.1:n.*1232-168_*1232-158del
ENST00000648372.1:n.1157-168_1157-158del
ENST00000261195.2:c.1230-168_1230-158del	ENSP00000261195.2:n.1230-168_1230-158del
NM_021957.3:c.1230-168_1230-158del	NP_068776.2:n.1230-168_1230-158del
XM_005253352.1:c.1230-168_1230-158del	XP_005253409.1:n.1230-168_1230-158del
XM_005253354.2:c.1011-168_1011-158del	XP_005253411.1:n.1011-168_1011-158del
XM_006719062.2:c.1230-168_1230-158del	XP_006719125.1:n.1230-168_1230-158del
XM_006719063.2:c.999-168_999-158del	XP_006719126.1:n.999-168_999-158del
NM_021957.4:c.1230-168_1230-158del MANE Select	NP_068776.2:n.1230-168_1230-158del
XM_006719063.3:c.999-168_999-158del	XP_006719126.1:n.999-168_999-158del
XM_024448960.1:c.1230-168_1230-158del	XP_024304728.1:n.1230-168_1230-158del