Canonical Allele Identifier: CA2487327679
Gene: RYR2 HGNC NCBI

Linked Data

dbSNP Id: rs1705042600

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237416778_237416779insAA , CM000663.2:g.237416778_237416779insAA GRCh38
NC_000001.10:g.237580078_237580079insAA , CM000663.1:g.237580078_237580079insAA GRCh37
NC_000001.9:g.235646701_235646702insAA NCBI36
NG_008799.2:g.379377_379378insAA
NG_008799.3:g.379595_379596insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.774-271_774-270insAA ENSP00000499659.2:n.774-271_774-270insAA
ENST00000659194.3:c.774-271_774-270insAA ENSP00000499653.3:n.774-271_774-270insAA
ENST00000660292.2:c.774-271_774-270insAA ENSP00000499787.2:n.774-271_774-270insAA
ENST00000366574.7:c.774-271_774-270insAA MANE Select ENSP00000355533.2:n.774-271_774-270insAA
ENST00000360064.7:c.726-271_726-270insAA ENSP00000353174.7:n.726-271_726-270insAA
ENST00000366574.6:c.774-271_774-270insAA ENSP00000355533.2:n.774-271_774-270insAA
NM_001035.2:c.774-271_774-270insAA NP_001026.2:n.774-271_774-270insAA
XM_006711802.2:c.774-271_774-270insAA XP_006711865.1:n.774-271_774-270insAA
XM_006711803.2:c.774-271_774-270insAA XP_006711866.1:n.774-271_774-270insAA
XM_006711804.2:c.774-271_774-270insAA XP_006711867.1:n.774-271_774-270insAA
XM_006711805.2:c.774-271_774-270insAA XP_006711868.1:n.774-271_774-270insAA
XM_006711806.2:c.774-271_774-270insAA XP_006711869.1:n.774-271_774-270insAA
XM_006711807.2:c.774-271_774-270insAA XP_006711870.1:n.774-271_774-270insAA
XM_006711808.2:c.774-271_774-270insAA XP_006711871.1:n.774-271_774-270insAA
XM_006711809.2:c.774-271_774-270insAA XP_006711872.1:n.774-271_774-270insAA
XM_006711810.2:c.774-271_774-270insAA XP_006711873.1:n.774-271_774-270insAA
XR_949152.1:n.1055-271_1055-270insAA
XM_006711802.3:c.774-271_774-270insAA XP_006711865.1:n.774-271_774-270insAA
XM_006711803.3:c.774-271_774-270insAA XP_006711866.1:n.774-271_774-270insAA
XM_006711804.3:c.774-271_774-270insAA XP_006711867.1:n.774-271_774-270insAA
XM_006711805.3:c.774-271_774-270insAA XP_006711868.1:n.774-271_774-270insAA
XM_006711806.3:c.774-271_774-270insAA XP_006711869.1:n.774-271_774-270insAA
XM_006711807.3:c.774-271_774-270insAA XP_006711870.1:n.774-271_774-270insAA
XM_006711808.3:c.774-271_774-270insAA XP_006711871.1:n.774-271_774-270insAA
XM_006711810.3:c.774-271_774-270insAA XP_006711873.1:n.774-271_774-270insAA
XM_017002028.1:c.753-271_753-270insAA XP_016857517.1:n.753-271_753-270insAA
XR_002957299.1:n.1088-271_1088-270insAA
XR_949152.2:n.1088-271_1088-270insAA
NM_001035.3:c.774-271_774-270insAA MANE Select NP_001026.2:n.774-271_774-270insAA