Canonical Allele Identifier: CA6480031

Gene: GYS2

Linked Data

• dbSNP Id: rs769031415
• ExAC: 12:21715946 GT / G
• gnomAD v2: 12-21715946-GT-G
• gnomAD v3: 12-21563012-GT-G
• gnomAD v4: 12-21563012-GT-G
• MyVariant Identifiers: chr12:g.21715947del (hg19) ; chr12:g.21563013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563013del , CM000674.2:g.21563013del	GRCh38
NC_000012.11:g.21715947del , CM000674.1:g.21715947del	GRCh37
NC_000012.10:g.21607214del	NCBI36
NG_016167.1:g.46835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.967del MANE Select	ENSP00000261195.2:p.Thr323LeufsTer21
ENST00000647960.1:c.*969del	ENSP00000497202.1:n.*969del
ENST00000648372.1:n.894del
ENST00000261195.2:c.967del	ENSP00000261195.2:p.Thr323LeufsTer21
NM_021957.3:c.967del	NP_068776.2:p.Thr323LeufsTer21
XM_005253352.1:c.967del	XP_005253409.1:p.Thr323LeufsTer21
XM_005253354.2:c.748del	XP_005253411.1:p.Thr250LeufsTer21
XM_006719062.2:c.967del	XP_006719125.1:p.Thr323LeufsTer21
XM_006719063.2:c.736del	XP_006719126.1:p.Thr246LeufsTer21
NM_021957.4:c.967del MANE Select	NP_068776.2:p.Thr323LeufsTer21
XM_006719063.3:c.736del	XP_006719126.1:p.Thr246LeufsTer21
XM_017019245.2:c.967del	XP_016874734.1:p.Thr323LeufsTer21
XM_024448960.1:c.967del	XP_024304728.1:p.Thr323LeufsTer21