Canonical Allele Identifier: CA6479828

Gene: GYS2

Linked Data

• dbSNP Id: rs749879849
• ExAC: 12:21699427 TAAAA / T
• gnomAD v2: 12-21699427-TAAAA-T
• gnomAD v3: 12-21546493-TAAAA-T
• gnomAD v4: 12-21546493-TAAAA-T
• MyVariant Identifiers: chr12:g.21699428_21699431del (hg19) ; chr12:g.21546494_21546497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546499_21546502del , CM000674.2:g.21546499_21546502del	GRCh38
NC_000012.11:g.21699433_21699436del , CM000674.1:g.21699433_21699436del	GRCh37
NC_000012.10:g.21590700_21590703del	NCBI36
NG_016167.1:g.63351_63354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1423-27_1423-24del MANE Select	ENSP00000261195.2:n.1423-27_1423-24del
ENST00000647960.1:c.*1425-27_*1425-24del	ENSP00000497202.1:n.*1425-27_*1425-24del
ENST00000261195.2:c.1423-27_1423-24del	ENSP00000261195.2:n.1423-27_1423-24del
NM_021957.3:c.1423-27_1423-24del	NP_068776.2:n.1423-27_1423-24del
XM_005253352.1:c.1423-27_1423-24del	XP_005253409.1:n.1423-27_1423-24del
XM_005253354.2:c.1204-27_1204-24del	XP_005253411.1:n.1204-27_1204-24del
XM_006719062.2:c.1423-27_1423-24del	XP_006719125.1:n.1423-27_1423-24del
XM_006719063.2:c.1192-27_1192-24del	XP_006719126.1:n.1192-27_1192-24del
NM_021957.4:c.1423-27_1423-24del MANE Select	NP_068776.2:n.1423-27_1423-24del
XM_006719063.3:c.1192-27_1192-24del	XP_006719126.1:n.1192-27_1192-24del
XM_024448960.1:c.1423-27_1423-24del	XP_024304728.1:n.1423-27_1423-24del