Canonical Allele Identifier: CA126173

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21604477T>C , CM000674.2:g.21604477T>C	GRCh38
NC_000012.11:g.21757411T>C , CM000674.1:g.21757411T>C	GRCh37
NC_000012.10:g.21648678T>C	NCBI36
NG_016167.1:g.5371A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021957.4:c.116A>G MANE Select	NP_068776.2:p.Asn39Ser
ENST00000261195.3:c.116A>G MANE Select	ENSP00000261195.2:p.Asn39Ser
NM_021957.3:c.116A>G	NP_068776.2:p.Asn39Ser
ENST00000261195.2:c.116A>G	ENSP00000261195.2:p.Asn39Ser
ENST00000647960.1:c.*124-23954A>G	ENSP00000497202.1:n.*124-23954A>G
ENST00000648372.1:n.107-23954A>G
XM_005253352.1:c.116A>G	XP_005253409.1:p.Asn39Ser
XM_005253354.2:c.-98-23954A>G	XP_005253411.1:n.-98-23954A>G
XM_006719062.2:c.116A>G	XP_006719125.1:p.Asn39Ser
XM_017019245.2:c.116A>G	XP_016874734.1:p.Asn39Ser
XM_024448960.1:c.116A>G	XP_024304728.1:p.Asn39Ser