Canonical Allele Identifier: CA345409132

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778695G>C , CM000663.2:g.237778695G>C	GRCh38
NC_000001.10:g.237941995G>C , CM000663.1:g.237941995G>C	GRCh37
NC_000001.9:g.236008618G>C	NCBI36
NG_008799.2:g.741294G>C
NG_008799.3:g.741512G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11805G>C MANE Select	NP_001026.2:p.Leu3935Phe
ENST00000366574.7:c.11805G>C MANE Select	ENSP00000355533.2:p.Leu3935Phe
NM_001035.2:c.11805G>C	NP_001026.2:p.Leu3935Phe
ENST00000360064.7:c.11757G>C	ENSP00000353174.7:p.Leu3919Phe
ENST00000366574.6:c.11805G>C	ENSP00000355533.2:p.Leu3935Phe
ENST00000609119.1:n.3000G>C
ENST00000609119.2:c.*2897G>C	ENSP00000499659.2:n.*2897G>C
ENST00000659194.1:c.3982G>C
ENST00000659194.2:c.3982G>C
ENST00000659194.3:c.11793G>C	ENSP00000499653.3:p.Leu3931Phe
ENST00000660292.1:c.1858G>C
ENST00000660292.2:c.11826G>C	ENSP00000499787.2:p.Leu3942Phe
XM_006711802.2:c.11859G>C	XP_006711865.1:p.Leu3953Phe
XM_006711802.3:c.11859G>C	XP_006711865.1:p.Leu3953Phe
XM_006711803.2:c.11856G>C	XP_006711866.1:p.Leu3952Phe
XM_006711803.3:c.11856G>C	XP_006711866.1:p.Leu3952Phe
XM_006711804.2:c.11835G>C	XP_006711867.1:p.Leu3945Phe
XM_006711804.3:c.11835G>C	XP_006711867.1:p.Leu3945Phe
XM_006711805.2:c.11829G>C	XP_006711868.1:p.Leu3943Phe
XM_006711805.3:c.11829G>C	XP_006711868.1:p.Leu3943Phe
XM_006711806.2:c.11823G>C	XP_006711869.1:p.Leu3941Phe
XM_006711806.3:c.11823G>C	XP_006711869.1:p.Leu3941Phe
XM_006711807.2:c.11799G>C	XP_006711870.1:p.Leu3933Phe
XM_006711807.3:c.11799G>C	XP_006711870.1:p.Leu3933Phe
XM_006711808.2:c.11622G>C	XP_006711871.1:p.Leu3874Phe
XM_006711808.3:c.11622G>C	XP_006711871.1:p.Leu3874Phe
XM_006711810.2:c.11766G>C	XP_006711873.1:p.Leu3922Phe
XM_006711810.3:c.11766G>C	XP_006711873.1:p.Leu3922Phe
XM_017002028.1:c.11838G>C	XP_016857517.1:p.Leu3946Phe