Canonical Allele Identifier: CA2697547739

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237651483_237651484delinsTA , CM000663.2:g.237651483_237651484delinsTA	GRCh38
NC_000001.10:g.237814783_237814784delinsTA , CM000663.1:g.237814783_237814784delinsTA	GRCh37
NC_000001.9:g.235881406_235881407delinsTA	NCBI36
NG_008799.2:g.614082_614083delinsTA
NG_008799.3:g.614300_614301delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7806_7807delinsTA	ENSP00000499659.2:p.Ala2603Thr
ENST00000659194.3:c.7806_7807delinsTA	ENSP00000499653.3:p.Ala2603Thr
ENST00000660292.2:c.7806_7807delinsTA	ENSP00000499787.2:p.Ala2603Thr
ENST00000366574.7:c.7806_7807delinsTA MANE Select	ENSP00000355533.2:p.Ala2603Thr
ENST00000360064.7:c.7758_7759delinsTA	ENSP00000353174.7:p.Ala2587Thr
ENST00000366574.6:c.7806_7807delinsTA	ENSP00000355533.2:p.Ala2603Thr
NM_001035.2:c.7806_7807delinsTA	NP_001026.2:p.Ala2603Thr
XM_006711802.2:c.7836_7837delinsTA	XP_006711865.1:p.Ala2613Thr
XM_006711803.2:c.7833_7834delinsTA	XP_006711866.1:p.Ala2612Thr
XM_006711804.2:c.7836_7837delinsTA	XP_006711867.1:p.Ala2613Thr
XM_006711805.2:c.7806_7807delinsTA	XP_006711868.1:p.Ala2603Thr
XM_006711806.2:c.7836_7837delinsTA	XP_006711869.1:p.Ala2613Thr
XM_006711807.2:c.7836_7837delinsTA	XP_006711870.1:p.Ala2613Thr
XM_006711808.2:c.7836_7837delinsTA	XP_006711871.1:p.Ala2613Thr
XM_006711809.2:c.7836_7837delinsTA	XP_006711872.1:p.Ala2613Thr
XM_006711810.2:c.7803_7804delinsTA	XP_006711873.1:p.Ala2602Thr
XR_949152.1:n.8117_8118delinsTA
XM_006711802.3:c.7836_7837delinsTA	XP_006711865.1:p.Ala2613Thr
XM_006711803.3:c.7833_7834delinsTA	XP_006711866.1:p.Ala2612Thr
XM_006711804.3:c.7836_7837delinsTA	XP_006711867.1:p.Ala2613Thr
XM_006711805.3:c.7806_7807delinsTA	XP_006711868.1:p.Ala2603Thr
XM_006711806.3:c.7836_7837delinsTA	XP_006711869.1:p.Ala2613Thr
XM_006711807.3:c.7836_7837delinsTA	XP_006711870.1:p.Ala2613Thr
XM_006711808.3:c.7836_7837delinsTA	XP_006711871.1:p.Ala2613Thr
XM_006711810.3:c.7803_7804delinsTA	XP_006711873.1:p.Ala2602Thr
XM_017002028.1:c.7815_7816delinsTA	XP_016857517.1:p.Ala2606Thr
XR_002957299.1:n.8150_8151delinsTA
XR_949152.2:n.8150_8151delinsTA
NM_001035.3:c.7806_7807delinsTA MANE Select	NP_001026.2:p.Ala2603Thr