Canonical Allele Identifier: CA384133180

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715961A>T (hg19) ; chr12:g.21563027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563027A>T , CM000674.2:g.21563027A>T	GRCh38
NC_000012.11:g.21715961A>T , CM000674.1:g.21715961A>T	GRCh37
NC_000012.10:g.21607228A>T	NCBI36
NG_016167.1:g.46821T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.953T>A MANE Select	ENSP00000261195.2:p.Phe318Tyr
ENST00000647960.1:c.*955T>A	ENSP00000497202.1:n.*955T>A
ENST00000648372.1:n.880T>A
ENST00000261195.2:c.953T>A	ENSP00000261195.2:p.Phe318Tyr
NM_021957.3:c.953T>A	NP_068776.2:p.Phe318Tyr
XM_005253352.1:c.953T>A	XP_005253409.1:p.Phe318Tyr
XM_005253354.2:c.734T>A	XP_005253411.1:p.Phe245Tyr
XM_006719062.2:c.953T>A	XP_006719125.1:p.Phe318Tyr
XM_006719063.2:c.722T>A	XP_006719126.1:p.Phe241Tyr
NM_021957.4:c.953T>A MANE Select	NP_068776.2:p.Phe318Tyr
XM_006719063.3:c.722T>A	XP_006719126.1:p.Phe241Tyr
XM_017019245.2:c.953T>A	XP_016874734.1:p.Phe318Tyr
XM_024448960.1:c.953T>A	XP_024304728.1:p.Phe318Tyr