Canonical Allele Identifier: CA2021176995

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559326_21559337delinsGTACATATTTAA , CM000674.2:g.21559326_21559337delinsGTACATATTTAA	GRCh38
NC_000012.11:g.21712260_21712271delinsGTACATATTTAA , CM000674.1:g.21712260_21712271delinsGTACATATTTAA	GRCh37
NC_000012.10:g.21603527_21603538delinsGTACATATTTAA	NCBI36
NG_016167.1:g.50511_50522delinsTTAAATATGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-168_1230-157delinsTTAAATATGTAC MANE Select	ENSP00000261195.2:n.1230-168_1230-157delinsTTAAATATGTAC
ENST00000647960.1:c.*1232-168_*1232-157delinsTTAAATATGTAC	ENSP00000497202.1:n.*1232-168_*1232-157delinsTTAAATATGTAC
ENST00000648372.1:n.1157-168_1157-157delinsTTAAATATGTAC
ENST00000261195.2:c.1230-168_1230-157delinsTTAAATATGTAC	ENSP00000261195.2:n.1230-168_1230-157delinsTTAAATATGTAC
NM_021957.3:c.1230-168_1230-157delinsTTAAATATGTAC	NP_068776.2:n.1230-168_1230-157delinsTTAAATATGTAC
XM_005253352.1:c.1230-168_1230-157delinsTTAAATATGTAC	XP_005253409.1:n.1230-168_1230-157delinsTTAAATATGTAC
XM_005253354.2:c.1011-168_1011-157delinsTTAAATATGTAC	XP_005253411.1:n.1011-168_1011-157delinsTTAAATATGTAC
XM_006719062.2:c.1230-168_1230-157delinsTTAAATATGTAC	XP_006719125.1:n.1230-168_1230-157delinsTTAAATATGTAC
XM_006719063.2:c.999-168_999-157delinsTTAAATATGTAC	XP_006719126.1:n.999-168_999-157delinsTTAAATATGTAC
NM_021957.4:c.1230-168_1230-157delinsTTAAATATGTAC MANE Select	NP_068776.2:n.1230-168_1230-157delinsTTAAATATGTAC
XM_006719063.3:c.999-168_999-157delinsTTAAATATGTAC	XP_006719126.1:n.999-168_999-157delinsTTAAATATGTAC
XM_024448960.1:c.1230-168_1230-157delinsTTAAATATGTAC	XP_024304728.1:n.1230-168_1230-157delinsTTAAATATGTAC