Canonical Allele Identifier: CA086908
Gene: RYR2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237614698C>T , CM000663.2:g.237614698C>T GRCh38
NC_000001.10:g.237777998C>T , CM000663.1:g.237777998C>T GRCh37
NC_000001.9:g.235844621C>T NCBI36
NG_008799.2:g.577297C>T
NG_008799.3:g.577515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.5570C>T ENSP00000499659.2:p.Pro1857Leu
ENST00000659194.3:c.5570C>T ENSP00000499653.3:p.Pro1857Leu
ENST00000660292.2:c.5570C>T ENSP00000499787.2:p.Pro1857Leu
ENST00000366574.7:c.5570C>T MANE Select ENSP00000355533.2:p.Pro1857Leu
ENST00000360064.7:c.5522C>T ENSP00000353174.7:p.Pro1841Leu
ENST00000366574.6:c.5570C>T ENSP00000355533.2:p.Pro1857Leu
NM_001035.2:c.5570C>T NP_001026.2:p.Pro1857Leu
XM_006711802.2:c.5600C>T XP_006711865.1:p.Pro1867Leu
XM_006711803.2:c.5597C>T XP_006711866.1:p.Pro1866Leu
XM_006711804.2:c.5600C>T XP_006711867.1:p.Pro1867Leu
XM_006711805.2:c.5570C>T XP_006711868.1:p.Pro1857Leu
XM_006711806.2:c.5600C>T XP_006711869.1:p.Pro1867Leu
XM_006711807.2:c.5600C>T XP_006711870.1:p.Pro1867Leu
XM_006711808.2:c.5600C>T XP_006711871.1:p.Pro1867Leu
XM_006711809.2:c.5600C>T XP_006711872.1:p.Pro1867Leu
XM_006711810.2:c.5567C>T XP_006711873.1:p.Pro1856Leu
XR_949152.1:n.5881C>T
XM_006711802.3:c.5600C>T XP_006711865.1:p.Pro1867Leu
XM_006711803.3:c.5597C>T XP_006711866.1:p.Pro1866Leu
XM_006711804.3:c.5600C>T XP_006711867.1:p.Pro1867Leu
XM_006711805.3:c.5570C>T XP_006711868.1:p.Pro1857Leu
XM_006711806.3:c.5600C>T XP_006711869.1:p.Pro1867Leu
XM_006711807.3:c.5600C>T XP_006711870.1:p.Pro1867Leu
XM_006711808.3:c.5600C>T XP_006711871.1:p.Pro1867Leu
XM_006711810.3:c.5567C>T XP_006711873.1:p.Pro1856Leu
XM_017002028.1:c.5579C>T XP_016857517.1:p.Pro1860Leu
XR_002957299.1:n.5914C>T
XR_949152.2:n.5914C>T
NM_001035.3:c.5570C>T MANE Select NP_001026.2:p.Pro1857Leu