Canonical Allele Identifier: CA478869520

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715927A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562993A>G , CM000674.2:g.21562993A>G	GRCh38
NC_000012.11:g.21715927A>G , CM000674.1:g.21715927A>G	GRCh37
NC_000012.10:g.21607194A>G	NCBI36
NG_016167.1:g.46855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.987T>C MANE Select	ENSP00000261195.2:p.Ala329=
ENST00000647960.1:c.*989T>C	ENSP00000497202.1:n.*989T>C
ENST00000648372.1:n.914T>C
ENST00000261195.2:c.987T>C	ENSP00000261195.2:p.Ala329=
NM_021957.3:c.987T>C	NP_068776.2:p.Ala329=
XM_005253352.1:c.987T>C	XP_005253409.1:p.Ala329=
XM_005253354.2:c.768T>C	XP_005253411.1:p.Ala256=
XM_006719062.2:c.987T>C	XP_006719125.1:p.Ala329=
XM_006719063.2:c.756T>C	XP_006719126.1:p.Ala252=
NM_021957.4:c.987T>C MANE Select	NP_068776.2:p.Ala329=
XM_006719063.3:c.756T>C	XP_006719126.1:p.Ala252=
XM_017019245.2:c.987T>C	XP_016874734.1:p.Ala329=
XM_024448960.1:c.987T>C	XP_024304728.1:p.Ala329=