Canonical Allele Identifier: CA233602248

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21558075C>A , CM000674.2:g.21558075C>A	GRCh38
NC_000012.11:g.21711009C>A , CM000674.1:g.21711009C>A	GRCh37
NC_000012.10:g.21602276C>A	NCBI36
NG_016167.1:g.51773G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021957.4:c.1422+125G>T MANE Select	NP_068776.2:n.1422+125G>T
ENST00000261195.3:c.1422+125G>T MANE Select	ENSP00000261195.2:n.1422+125G>T
NM_021957.3:c.1422+125G>T	NP_068776.2:n.1422+125G>T
ENST00000261195.2:c.1422+125G>T	ENSP00000261195.2:n.1422+125G>T
ENST00000647960.1:c.*1424+125G>T	ENSP00000497202.1:n.*1424+125G>T
ENST00000648372.1:n.1474G>T
XM_005253352.1:c.1422+125G>T	XP_005253409.1:n.1422+125G>T
XM_005253354.2:c.1203+125G>T	XP_005253411.1:n.1203+125G>T
XM_006719062.2:c.1422+125G>T	XP_006719125.1:n.1422+125G>T
XM_006719063.2:c.1191+125G>T	XP_006719126.1:n.1191+125G>T
XM_006719063.3:c.1191+125G>T	XP_006719126.1:n.1191+125G>T
XM_024448960.1:c.1422+125G>T	XP_024304728.1:n.1422+125G>T