Canonical Allele Identifier: CA2741237854

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559326G>T , CM000674.2:g.21559326G>T	GRCh38
NC_000012.11:g.21712260G>T , CM000674.1:g.21712260G>T	GRCh37
NC_000012.10:g.21603527G>T	NCBI36
NG_016167.1:g.50522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-157C>A MANE Select	ENSP00000261195.2:n.1230-157C>A
ENST00000647960.1:c.*1232-157C>A	ENSP00000497202.1:n.*1232-157C>A
ENST00000648372.1:n.1157-157C>A
ENST00000261195.2:c.1230-157C>A	ENSP00000261195.2:n.1230-157C>A
NM_021957.3:c.1230-157C>A	NP_068776.2:n.1230-157C>A
XM_005253352.1:c.1230-157C>A	XP_005253409.1:n.1230-157C>A
XM_005253354.2:c.1011-157C>A	XP_005253411.1:n.1011-157C>A
XM_006719062.2:c.1230-157C>A	XP_006719125.1:n.1230-157C>A
XM_006719063.2:c.999-157C>A	XP_006719126.1:n.999-157C>A
NM_021957.4:c.1230-157C>A MANE Select	NP_068776.2:n.1230-157C>A
XM_006719063.3:c.999-157C>A	XP_006719126.1:n.999-157C>A
XM_024448960.1:c.1230-157C>A	XP_024304728.1:n.1230-157C>A