Canonical Allele Identifier: CA345410747

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237791191T>G (hg19) ; chr1:g.237627891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627891T>G , CM000663.2:g.237627891T>G	GRCh38
NC_000001.10:g.237791191T>G , CM000663.1:g.237791191T>G	GRCh37
NC_000001.9:g.235857814T>G	NCBI36
NG_008799.2:g.590490T>G
NG_008799.3:g.590708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6251T>G	ENSP00000499659.2:p.Met2084Arg
ENST00000659194.3:c.6251T>G	ENSP00000499653.3:p.Met2084Arg
ENST00000660292.2:c.6251T>G	ENSP00000499787.2:p.Met2084Arg
ENST00000366574.7:c.6251T>G MANE Select	ENSP00000355533.2:p.Met2084Arg
ENST00000360064.7:c.6203T>G	ENSP00000353174.7:p.Met2068Arg
ENST00000366574.6:c.6251T>G	ENSP00000355533.2:p.Met2084Arg
NM_001035.2:c.6251T>G	NP_001026.2:p.Met2084Arg
XM_006711802.2:c.6281T>G	XP_006711865.1:p.Met2094Arg
XM_006711803.2:c.6278T>G	XP_006711866.1:p.Met2093Arg
XM_006711804.2:c.6281T>G	XP_006711867.1:p.Met2094Arg
XM_006711805.2:c.6251T>G	XP_006711868.1:p.Met2084Arg
XM_006711806.2:c.6281T>G	XP_006711869.1:p.Met2094Arg
XM_006711807.2:c.6281T>G	XP_006711870.1:p.Met2094Arg
XM_006711808.2:c.6281T>G	XP_006711871.1:p.Met2094Arg
XM_006711809.2:c.6281T>G	XP_006711872.1:p.Met2094Arg
XM_006711810.2:c.6248T>G	XP_006711873.1:p.Met2083Arg
XR_949152.1:n.6562T>G
XM_006711802.3:c.6281T>G	XP_006711865.1:p.Met2094Arg
XM_006711803.3:c.6278T>G	XP_006711866.1:p.Met2093Arg
XM_006711804.3:c.6281T>G	XP_006711867.1:p.Met2094Arg
XM_006711805.3:c.6251T>G	XP_006711868.1:p.Met2084Arg
XM_006711806.3:c.6281T>G	XP_006711869.1:p.Met2094Arg
XM_006711807.3:c.6281T>G	XP_006711870.1:p.Met2094Arg
XM_006711808.3:c.6281T>G	XP_006711871.1:p.Met2094Arg
XM_006711810.3:c.6248T>G	XP_006711873.1:p.Met2083Arg
XM_017002028.1:c.6260T>G	XP_016857517.1:p.Met2087Arg
XR_002957299.1:n.6595T>G
XR_949152.2:n.6595T>G
NM_001035.3:c.6251T>G MANE Select	NP_001026.2:p.Met2084Arg