Canonical Allele Identifier: CA2487327661
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237416759_237416769delinsCACACAGAGAG , CM000663.2:g.237416759_237416769delinsCACACAGAGAG GRCh38
NC_000001.10:g.237580059_237580069delinsCACACAGAGAG , CM000663.1:g.237580059_237580069delinsCACACAGAGAG GRCh37
NC_000001.9:g.235646682_235646692delinsCACACAGAGAG NCBI36
NG_008799.2:g.379358_379368delinsCACACAGAGAG
NG_008799.3:g.379576_379586delinsCACACAGAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.774-290_774-280delinsCACACAGAGAG ENSP00000499659.2:n.774-290_774-280delinsCACACAGAGAG
ENST00000659194.3:c.774-290_774-280delinsCACACAGAGAG ENSP00000499653.3:n.774-290_774-280delinsCACACAGAGAG
ENST00000660292.2:c.774-290_774-280delinsCACACAGAGAG ENSP00000499787.2:n.774-290_774-280delinsCACACAGAGAG
ENST00000366574.7:c.774-290_774-280delinsCACACAGAGAG MANE Select ENSP00000355533.2:n.774-290_774-280delinsCACACAGAGAG
ENST00000360064.7:c.726-290_726-280delinsCACACAGAGAG ENSP00000353174.7:n.726-290_726-280delinsCACACAGAGAG
ENST00000366574.6:c.774-290_774-280delinsCACACAGAGAG ENSP00000355533.2:n.774-290_774-280delinsCACACAGAGAG
NM_001035.2:c.774-290_774-280delinsCACACAGAGAG NP_001026.2:n.774-290_774-280delinsCACACAGAGAG
XM_006711802.2:c.774-290_774-280delinsCACACAGAGAG XP_006711865.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711803.2:c.774-290_774-280delinsCACACAGAGAG XP_006711866.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711804.2:c.774-290_774-280delinsCACACAGAGAG XP_006711867.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711805.2:c.774-290_774-280delinsCACACAGAGAG XP_006711868.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711806.2:c.774-290_774-280delinsCACACAGAGAG XP_006711869.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711807.2:c.774-290_774-280delinsCACACAGAGAG XP_006711870.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711808.2:c.774-290_774-280delinsCACACAGAGAG XP_006711871.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711809.2:c.774-290_774-280delinsCACACAGAGAG XP_006711872.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711810.2:c.774-290_774-280delinsCACACAGAGAG XP_006711873.1:n.774-290_774-280delinsCACACAGAGAG
XR_949152.1:n.1055-290_1055-280delinsCACACAGAGAG
XM_006711802.3:c.774-290_774-280delinsCACACAGAGAG XP_006711865.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711803.3:c.774-290_774-280delinsCACACAGAGAG XP_006711866.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711804.3:c.774-290_774-280delinsCACACAGAGAG XP_006711867.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711805.3:c.774-290_774-280delinsCACACAGAGAG XP_006711868.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711806.3:c.774-290_774-280delinsCACACAGAGAG XP_006711869.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711807.3:c.774-290_774-280delinsCACACAGAGAG XP_006711870.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711808.3:c.774-290_774-280delinsCACACAGAGAG XP_006711871.1:n.774-290_774-280delinsCACACAGAGAG
XM_006711810.3:c.774-290_774-280delinsCACACAGAGAG XP_006711873.1:n.774-290_774-280delinsCACACAGAGAG
XM_017002028.1:c.753-290_753-280delinsCACACAGAGAG XP_016857517.1:n.753-290_753-280delinsCACACAGAGAG
XR_002957299.1:n.1088-290_1088-280delinsCACACAGAGAG
XR_949152.2:n.1088-290_1088-280delinsCACACAGAGAG
NM_001035.3:c.774-290_774-280delinsCACACAGAGAG MANE Select NP_001026.2:n.774-290_774-280delinsCACACAGAGAG