Canonical Allele Identifier: CA6479924

Gene: GYS2

Linked Data

• ClinVar Variation Id: 261464
• ClinVar RCV Id: RCV000243032 ; RCV001610725 ; RCV001701909
• dbSNP Id: rs1871136
• ExAC: 12:21712545 A / G
• gnomAD v2: 12-21712545-A-G
• gnomAD v3: 12-21559611-A-G
• gnomAD v4: 12-21559611-A-G
• MyVariant Identifiers: chr12:g.21712545A>G (hg19) ; chr12:g.21559611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559611A>G , CM000674.2:g.21559611A>G	GRCh38
NC_000012.11:g.21712545A>G , CM000674.1:g.21712545A>G	GRCh37
NC_000012.10:g.21603812A>G	NCBI36
NG_016167.1:g.50237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1229+40T>C MANE Select	ENSP00000261195.2:n.1229+40T>C
ENST00000647960.1:c.*1231+40T>C	ENSP00000497202.1:n.*1231+40T>C
ENST00000648372.1:n.1156+40T>C
ENST00000261195.2:c.1229+40T>C	ENSP00000261195.2:n.1229+40T>C
NM_021957.3:c.1229+40T>C	NP_068776.2:n.1229+40T>C
XM_005253352.1:c.1229+40T>C	XP_005253409.1:n.1229+40T>C
XM_005253354.2:c.1010+40T>C	XP_005253411.1:n.1010+40T>C
XM_006719062.2:c.1229+40T>C	XP_006719125.1:n.1229+40T>C
XM_006719063.2:c.998+40T>C	XP_006719126.1:n.998+40T>C
NM_021957.4:c.1229+40T>C MANE Select	NP_068776.2:n.1229+40T>C
XM_006719063.3:c.998+40T>C	XP_006719126.1:n.998+40T>C
XM_024448960.1:c.1229+40T>C	XP_024304728.1:n.1229+40T>C