Canonical Allele Identifier: CA2021176964

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559267_21559271delinsTAATA , CM000674.2:g.21559267_21559271delinsTAATA	GRCh38
NC_000012.11:g.21712201_21712205delinsTAATA , CM000674.1:g.21712201_21712205delinsTAATA	GRCh37
NC_000012.10:g.21603468_21603472delinsTAATA	NCBI36
NG_016167.1:g.50577_50581delinsTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-102_1230-98delinsTATTA MANE Select	ENSP00000261195.2:n.1230-102_1230-98delinsTATTA
ENST00000647960.1:c.*1232-102_*1232-98delinsTATTA	ENSP00000497202.1:n.*1232-102_*1232-98delinsTATTA
ENST00000648372.1:n.1157-102_1157-98delinsTATTA
ENST00000261195.2:c.1230-102_1230-98delinsTATTA	ENSP00000261195.2:n.1230-102_1230-98delinsTATTA
NM_021957.3:c.1230-102_1230-98delinsTATTA	NP_068776.2:n.1230-102_1230-98delinsTATTA
XM_005253352.1:c.1230-102_1230-98delinsTATTA	XP_005253409.1:n.1230-102_1230-98delinsTATTA
XM_005253354.2:c.1011-102_1011-98delinsTATTA	XP_005253411.1:n.1011-102_1011-98delinsTATTA
XM_006719062.2:c.1230-102_1230-98delinsTATTA	XP_006719125.1:n.1230-102_1230-98delinsTATTA
XM_006719063.2:c.999-102_999-98delinsTATTA	XP_006719126.1:n.999-102_999-98delinsTATTA
NM_021957.4:c.1230-102_1230-98delinsTATTA MANE Select	NP_068776.2:n.1230-102_1230-98delinsTATTA
XM_006719063.3:c.999-102_999-98delinsTATTA	XP_006719126.1:n.999-102_999-98delinsTATTA
XM_024448960.1:c.1230-102_1230-98delinsTATTA	XP_024304728.1:n.1230-102_1230-98delinsTATTA