Canonical Allele Identifier: CA686414446

Gene: GYS2

Linked Data

• dbSNP Id: rs1349394811
• gnomAD v4: 12-21562783-G-A
• MyVariant Identifiers: chr12:g.21715717G>A (hg19) ; chr12:g.21562783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562783G>A , CM000674.2:g.21562783G>A	GRCh38
NC_000012.11:g.21715717G>A , CM000674.1:g.21715717G>A	GRCh37
NC_000012.10:g.21606984G>A	NCBI36
NG_016167.1:g.47065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+135C>T MANE Select	ENSP00000261195.2:n.1062+135C>T
ENST00000647960.1:c.*1064+135C>T	ENSP00000497202.1:n.*1064+135C>T
ENST00000648372.1:n.989+135C>T
ENST00000261195.2:c.1062+135C>T	ENSP00000261195.2:n.1062+135C>T
NM_021957.3:c.1062+135C>T	NP_068776.2:n.1062+135C>T
XM_005253352.1:c.1062+135C>T	XP_005253409.1:n.1062+135C>T
XM_005253354.2:c.843+135C>T	XP_005253411.1:n.843+135C>T
XM_006719062.2:c.1062+135C>T	XP_006719125.1:n.1062+135C>T
XM_006719063.2:c.831+135C>T	XP_006719126.1:n.831+135C>T
NM_021957.4:c.1062+135C>T MANE Select	NP_068776.2:n.1062+135C>T
XM_006719063.3:c.831+135C>T	XP_006719126.1:n.831+135C>T
XM_017019245.2:c.1062+135C>T	XP_016874734.1:n.1062+135C>T
XM_024448960.1:c.1062+135C>T	XP_024304728.1:n.1062+135C>T