Canonical Allele Identifier: CA2487310793
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237377432_237377433delinsCT , CM000663.2:g.237377432_237377433delinsCT GRCh38
NC_000001.10:g.237540732_237540733delinsCT , CM000663.1:g.237540732_237540733delinsCT GRCh37
NC_000001.9:g.235607355_235607356delinsCT NCBI36
NG_008799.2:g.340031_340032delinsCT
NG_008799.3:g.340249_340250delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.573_574delinsCT ENSP00000499659.2:p.Tyr191=
ENST00000659194.3:c.573_574delinsCT ENSP00000499653.3:p.Tyr191=
ENST00000660292.2:c.573_574delinsCT ENSP00000499787.2:p.Tyr191=
ENST00000366574.7:c.573_574delinsCT MANE Select ENSP00000355533.2:p.Tyr191=
ENST00000360064.7:c.525_526delinsCT ENSP00000353174.7:p.Tyr175=
ENST00000366574.6:c.573_574delinsCT ENSP00000355533.2:p.Tyr191=
NM_001035.2:c.573_574delinsCT NP_001026.2:p.Tyr191=
XM_006711802.2:c.573_574delinsCT XP_006711865.1:p.Tyr191=
XM_006711803.2:c.573_574delinsCT XP_006711866.1:p.Tyr191=
XM_006711804.2:c.573_574delinsCT XP_006711867.1:p.Tyr191=
XM_006711805.2:c.573_574delinsCT XP_006711868.1:p.Tyr191=
XM_006711806.2:c.573_574delinsCT XP_006711869.1:p.Tyr191=
XM_006711807.2:c.573_574delinsCT XP_006711870.1:p.Tyr191=
XM_006711808.2:c.573_574delinsCT XP_006711871.1:p.Tyr191=
XM_006711809.2:c.573_574delinsCT XP_006711872.1:p.Tyr191=
XM_006711810.2:c.573_574delinsCT XP_006711873.1:p.Tyr191=
XR_949152.1:n.854_855delinsCT
XM_006711802.3:c.573_574delinsCT XP_006711865.1:p.Tyr191=
XM_006711803.3:c.573_574delinsCT XP_006711866.1:p.Tyr191=
XM_006711804.3:c.573_574delinsCT XP_006711867.1:p.Tyr191=
XM_006711805.3:c.573_574delinsCT XP_006711868.1:p.Tyr191=
XM_006711806.3:c.573_574delinsCT XP_006711869.1:p.Tyr191=
XM_006711807.3:c.573_574delinsCT XP_006711870.1:p.Tyr191=
XM_006711808.3:c.573_574delinsCT XP_006711871.1:p.Tyr191=
XM_006711810.3:c.573_574delinsCT XP_006711873.1:p.Tyr191=
XM_017002028.1:c.552_553delinsCT XP_016857517.1:p.Tyr184=
XR_002957299.1:n.887_888delinsCT
XR_949152.2:n.887_888delinsCT
NM_001035.3:c.573_574delinsCT MANE Select NP_001026.2:p.Tyr191=