Canonical Allele Identifier: CA2021176983

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559308_21559310delinsCAT , CM000674.2:g.21559308_21559310delinsCAT	GRCh38
NC_000012.11:g.21712242_21712244delinsCAT , CM000674.1:g.21712242_21712244delinsCAT	GRCh37
NC_000012.10:g.21603509_21603511delinsCAT	NCBI36
NG_016167.1:g.50538_50540delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-141_1230-139delinsATG MANE Select	ENSP00000261195.2:n.1230-141_1230-139delinsATG
ENST00000647960.1:c.*1232-141_*1232-139delinsATG	ENSP00000497202.1:n.*1232-141_*1232-139delinsATG
ENST00000648372.1:n.1157-141_1157-139delinsATG
ENST00000261195.2:c.1230-141_1230-139delinsATG	ENSP00000261195.2:n.1230-141_1230-139delinsATG
NM_021957.3:c.1230-141_1230-139delinsATG	NP_068776.2:n.1230-141_1230-139delinsATG
XM_005253352.1:c.1230-141_1230-139delinsATG	XP_005253409.1:n.1230-141_1230-139delinsATG
XM_005253354.2:c.1011-141_1011-139delinsATG	XP_005253411.1:n.1011-141_1011-139delinsATG
XM_006719062.2:c.1230-141_1230-139delinsATG	XP_006719125.1:n.1230-141_1230-139delinsATG
XM_006719063.2:c.999-141_999-139delinsATG	XP_006719126.1:n.999-141_999-139delinsATG
NM_021957.4:c.1230-141_1230-139delinsATG MANE Select	NP_068776.2:n.1230-141_1230-139delinsATG
XM_006719063.3:c.999-141_999-139delinsATG	XP_006719126.1:n.999-141_999-139delinsATG
XM_024448960.1:c.1230-141_1230-139delinsATG	XP_024304728.1:n.1230-141_1230-139delinsATG