Canonical Allele Identifier: CA085327

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237785960T>C , CM000663.2:g.237785960T>C	GRCh38
NC_000001.10:g.237949260T>C , CM000663.1:g.237949260T>C	GRCh37
NC_000001.9:g.236015883T>C	NCBI36
NG_008799.2:g.748559T>C
NG_008799.3:g.748777T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13261-9T>C MANE Select	NP_001026.2:n.13261-9T>C
ENST00000366574.7:c.13261-9T>C MANE Select	ENSP00000355533.2:n.13261-9T>C
NM_001035.2:c.13261-9T>C	NP_001026.2:n.13261-9T>C
ENST00000360064.7:c.13243+954T>C	ENSP00000353174.7:n.13243+954T>C
ENST00000366574.6:c.13261-9T>C	ENSP00000355533.2:n.13261-9T>C
ENST00000609119.1:n.4456-9T>C
ENST00000609119.2:c.*4353-9T>C	ENSP00000499659.2:n.*4353-9T>C
ENST00000659194.2:c.5438-15T>C
ENST00000659194.3:c.13249-15T>C	ENSP00000499653.3:n.13249-15T>C
ENST00000660292.1:c.3314-9T>C
ENST00000660292.2:c.13282-9T>C	ENSP00000499787.2:n.13282-9T>C
XM_006711802.2:c.13315-9T>C	XP_006711865.1:n.13315-9T>C
XM_006711802.3:c.13315-9T>C	XP_006711865.1:n.13315-9T>C
XM_006711803.2:c.13312-9T>C	XP_006711866.1:n.13312-9T>C
XM_006711803.3:c.13312-9T>C	XP_006711866.1:n.13312-9T>C
XM_006711804.2:c.13291-9T>C	XP_006711867.1:n.13291-9T>C
XM_006711804.3:c.13291-9T>C	XP_006711867.1:n.13291-9T>C
XM_006711805.2:c.13285-9T>C	XP_006711868.1:n.13285-9T>C
XM_006711805.3:c.13285-9T>C	XP_006711868.1:n.13285-9T>C
XM_006711806.2:c.13279-9T>C	XP_006711869.1:n.13279-9T>C
XM_006711806.3:c.13279-9T>C	XP_006711869.1:n.13279-9T>C
XM_006711807.2:c.13255-9T>C	XP_006711870.1:n.13255-9T>C
XM_006711807.3:c.13255-9T>C	XP_006711870.1:n.13255-9T>C
XM_006711808.2:c.13078-9T>C	XP_006711871.1:n.13078-9T>C
XM_006711808.3:c.13078-9T>C	XP_006711871.1:n.13078-9T>C
XM_006711810.2:c.13222-9T>C	XP_006711873.1:n.13222-9T>C
XM_006711810.3:c.13222-9T>C	XP_006711873.1:n.13222-9T>C
XM_017002028.1:c.13294-9T>C	XP_016857517.1:n.13294-9T>C