Canonical Allele Identifier: CA384132439

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715887G>T (hg19) ; chr12:g.21562953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562953G>T , CM000674.2:g.21562953G>T	GRCh38
NC_000012.11:g.21715887G>T , CM000674.1:g.21715887G>T	GRCh37
NC_000012.10:g.21607154G>T	NCBI36
NG_016167.1:g.46895C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1027C>A MANE Select	ENSP00000261195.2:p.Leu343Ile
ENST00000647960.1:c.*1029C>A	ENSP00000497202.1:n.*1029C>A
ENST00000648372.1:n.954C>A
ENST00000261195.2:c.1027C>A	ENSP00000261195.2:p.Leu343Ile
NM_021957.3:c.1027C>A	NP_068776.2:p.Leu343Ile
XM_005253352.1:c.1027C>A	XP_005253409.1:p.Leu343Ile
XM_005253354.2:c.808C>A	XP_005253411.1:p.Leu270Ile
XM_006719062.2:c.1027C>A	XP_006719125.1:p.Leu343Ile
XM_006719063.2:c.796C>A	XP_006719126.1:p.Leu266Ile
NM_021957.4:c.1027C>A MANE Select	NP_068776.2:p.Leu343Ile
XM_006719063.3:c.796C>A	XP_006719126.1:p.Leu266Ile
XM_017019245.2:c.1027C>A	XP_016874734.1:p.Leu343Ile
XM_024448960.1:c.1027C>A	XP_024304728.1:p.Leu343Ile