Canonical Allele Identifier: CA345424382

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972288A>C (hg19) ; chr1:g.237808988A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808988A>C , CM000663.2:g.237808988A>C	GRCh38
NC_000001.10:g.237972288A>C , CM000663.1:g.237972288A>C	GRCh37
NC_000001.9:g.236038911A>C	NCBI36
NG_008799.2:g.771587A>C
NG_008799.3:g.771805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5478A>C	ENSP00000499659.2:n.*5478A>C
ENST00000659194.3:c.14368A>C	ENSP00000499653.3:p.Ser4790Arg
ENST00000660292.2:c.14407A>C	ENSP00000499787.2:p.Ser4803Arg
ENST00000659194.2:c.6557A>C
ENST00000366574.7:c.14386A>C MANE Select	ENSP00000355533.2:p.Ser4796Arg
ENST00000360064.7:c.14335A>C	ENSP00000353174.7:p.Ser4779Arg
ENST00000366574.6:c.14386A>C	ENSP00000355533.2:p.Ser4796Arg
ENST00000608590.5:n.897A>C
NM_001035.2:c.14386A>C	NP_001026.2:p.Ser4796Arg
XM_006711802.2:c.14440A>C	XP_006711865.1:p.Ser4814Arg
XM_006711803.2:c.14437A>C	XP_006711866.1:p.Ser4813Arg
XM_006711804.2:c.14416A>C	XP_006711867.1:p.Ser4806Arg
XM_006711805.2:c.14410A>C	XP_006711868.1:p.Ser4804Arg
XM_006711806.2:c.14404A>C	XP_006711869.1:p.Ser4802Arg
XM_006711807.2:c.14380A>C	XP_006711870.1:p.Ser4794Arg
XM_006711808.2:c.14203A>C	XP_006711871.1:p.Ser4735Arg
XM_006711810.2:c.14347A>C	XP_006711873.1:p.Ser4783Arg
XM_006711802.3:c.14440A>C	XP_006711865.1:p.Ser4814Arg
XM_006711803.3:c.14437A>C	XP_006711866.1:p.Ser4813Arg
XM_006711804.3:c.14416A>C	XP_006711867.1:p.Ser4806Arg
XM_006711805.3:c.14410A>C	XP_006711868.1:p.Ser4804Arg
XM_006711806.3:c.14404A>C	XP_006711869.1:p.Ser4802Arg
XM_006711807.3:c.14380A>C	XP_006711870.1:p.Ser4794Arg
XM_006711808.3:c.14203A>C	XP_006711871.1:p.Ser4735Arg
XM_006711810.3:c.14347A>C	XP_006711873.1:p.Ser4783Arg
XM_017002028.1:c.14419A>C	XP_016857517.1:p.Ser4807Arg
NM_001035.3:c.14386A>C MANE Select	NP_001026.2:p.Ser4796Arg