Canonical Allele Identifier: CA1148225094
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237772024A= , CM000663.2:g.237772024A= GRCh38
NC_000001.10:g.237935324A= , CM000663.1:g.237935324A= GRCh37
NC_000001.9:g.236001947A= NCBI36
NG_008799.2:g.734623A=
NG_008799.3:g.734841A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*2662A= ENSP00000499659.2:n.*2662A=
ENST00000659194.3:c.11558A= ENSP00000499653.3:p.Tyr3853=
ENST00000660292.2:c.11591A= ENSP00000499787.2:p.Tyr3864=
ENST00000659194.2:c.3747A=
ENST00000366574.7:c.11570A= MANE Select ENSP00000355533.2:p.Tyr3857=
ENST00000659194.1:c.3747A=
ENST00000660292.1:c.1623A=
ENST00000360064.7:c.11522A= ENSP00000353174.7:p.Tyr3841=
ENST00000366574.6:c.11570A= ENSP00000355533.2:p.Tyr3857=
ENST00000609119.1:n.2765A=
NM_001035.2:c.11570A= NP_001026.2:p.Tyr3857=
XM_006711802.2:c.11624A= XP_006711865.1:p.Tyr3875=
XM_006711803.2:c.11621A= XP_006711866.1:p.Tyr3874=
XM_006711804.2:c.11600A= XP_006711867.1:p.Tyr3867=
XM_006711805.2:c.11594A= XP_006711868.1:p.Tyr3865=
XM_006711806.2:c.11588A= XP_006711869.1:p.Tyr3863=
XM_006711807.2:c.11564A= XP_006711870.1:p.Tyr3855=
XM_006711808.2:c.11387A= XP_006711871.1:p.Tyr3796=
XM_006711810.2:c.11531A= XP_006711873.1:p.Tyr3844=
XM_006711802.3:c.11624A= XP_006711865.1:p.Tyr3875=
XM_006711803.3:c.11621A= XP_006711866.1:p.Tyr3874=
XM_006711804.3:c.11600A= XP_006711867.1:p.Tyr3867=
XM_006711805.3:c.11594A= XP_006711868.1:p.Tyr3865=
XM_006711806.3:c.11588A= XP_006711869.1:p.Tyr3863=
XM_006711807.3:c.11564A= XP_006711870.1:p.Tyr3855=
XM_006711808.3:c.11387A= XP_006711871.1:p.Tyr3796=
XM_006711810.3:c.11531A= XP_006711873.1:p.Tyr3844=
XM_017002028.1:c.11603A= XP_016857517.1:p.Tyr3868=
NM_001035.3:c.11570A= MANE Select NP_001026.2:p.Tyr3857=