Canonical Allele Identifier: CA6480006

Gene: GYS2

Linked Data

• dbSNP Id: rs753693698
• ExAC: 12:21715810 C / T
• gnomAD v2: 12-21715810-C-T
• gnomAD v3: 12-21562876-C-T
• gnomAD v4: 12-21562876-C-T
• MyVariant Identifiers: chr12:g.21715810C>T (hg19) ; chr12:g.21562876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562876C>T , CM000674.2:g.21562876C>T	GRCh38
NC_000012.11:g.21715810C>T , CM000674.1:g.21715810C>T	GRCh37
NC_000012.10:g.21607077C>T	NCBI36
NG_016167.1:g.46972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+42G>A MANE Select	ENSP00000261195.2:n.1062+42G>A
ENST00000647960.1:c.*1064+42G>A	ENSP00000497202.1:n.*1064+42G>A
ENST00000648372.1:n.989+42G>A
ENST00000261195.2:c.1062+42G>A	ENSP00000261195.2:n.1062+42G>A
NM_021957.3:c.1062+42G>A	NP_068776.2:n.1062+42G>A
XM_005253352.1:c.1062+42G>A	XP_005253409.1:n.1062+42G>A
XM_005253354.2:c.843+42G>A	XP_005253411.1:n.843+42G>A
XM_006719062.2:c.1062+42G>A	XP_006719125.1:n.1062+42G>A
XM_006719063.2:c.831+42G>A	XP_006719126.1:n.831+42G>A
NM_021957.4:c.1062+42G>A MANE Select	NP_068776.2:n.1062+42G>A
XM_006719063.3:c.831+42G>A	XP_006719126.1:n.831+42G>A
XM_017019245.2:c.1062+42G>A	XP_016874734.1:n.1062+42G>A
XM_024448960.1:c.1062+42G>A	XP_024304728.1:n.1062+42G>A