Canonical Allele Identifier: CA2487391283

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237566479_237566503delinsTTATCTTTCCTTCTTTTATTTATGA , CM000663.2:g.237566479_237566503delinsTTATCTTTCCTTCTTTTATTTATGA	GRCh38
NC_000001.10:g.237729779_237729803delinsTTATCTTTCCTTCTTTTATTTATGA , CM000663.1:g.237729779_237729803delinsTTATCTTTCCTTCTTTTATTTATGA	GRCh37
NC_000001.9:g.235796402_235796426delinsTTATCTTTCCTTCTTTTATTTATGA	NCBI36
NG_008799.2:g.529078_529102delinsTTATCTTTCCTTCTTTTATTTATGA
NG_008799.3:g.529296_529320delinsTTATCTTTCCTTCTTTTATTTATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	ENSP00000499659.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATT...
ENST00000659194.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	ENSP00000499653.3:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATT...
ENST00000660292.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	ENSP00000499787.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATT...
ENST00000366574.7:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA MANE Select	ENSP00000355533.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATT...
ENST00000360064.7:c.3167-88_3167-64delinsTTATCTTTCCTTCTTTTATTTATGA	ENSP00000353174.7:n.3167-88_3167-64delinsTTATCTTTCCTTCTTTTATT...
ENST00000366574.6:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	ENSP00000355533.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATT...
NM_001035.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	NP_001026.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA
XM_006711802.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711865.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711803.2:c.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711866.1:n.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711804.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711867.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711805.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711868.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711806.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711869.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711807.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711870.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711808.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711871.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711809.2:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711872.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711810.2:c.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711873.1:n.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTAT...
XR_949152.1:n.3496-88_3496-64delinsTTATCTTTCCTTCTTTTATTTATGA
XM_006711802.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711865.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711803.3:c.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711866.1:n.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711804.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711867.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711805.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711868.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711806.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711869.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711807.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711870.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711808.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711871.1:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTAT...
XM_006711810.3:c.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTATGA	XP_006711873.1:n.3215-91_3215-67delinsTTATCTTTCCTTCTTTTATTTAT...
XM_017002028.1:c.3194-88_3194-64delinsTTATCTTTCCTTCTTTTATTTATGA	XP_016857517.1:n.3194-88_3194-64delinsTTATCTTTCCTTCTTTTATTTAT...
XR_002957299.1:n.3529-88_3529-64delinsTTATCTTTCCTTCTTTTATTTATGA
XR_949152.2:n.3529-88_3529-64delinsTTATCTTTCCTTCTTTTATTTATGA
NM_001035.3:c.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA MANE Select	NP_001026.2:n.3215-88_3215-64delinsTTATCTTTCCTTCTTTTATTTATGA