Canonical Allele Identifier: CA345424039

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972216G>C (hg19) ; chr1:g.237808916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808916G>C , CM000663.2:g.237808916G>C	GRCh38
NC_000001.10:g.237972216G>C , CM000663.1:g.237972216G>C	GRCh37
NC_000001.9:g.236038839G>C	NCBI36
NG_008799.2:g.771515G>C
NG_008799.3:g.771733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5406G>C	ENSP00000499659.2:n.*5406G>C
ENST00000659194.3:c.14296G>C	ENSP00000499653.3:p.Gly4766Arg
ENST00000660292.2:c.14335G>C	ENSP00000499787.2:p.Gly4779Arg
ENST00000659194.2:c.6485G>C
ENST00000366574.7:c.14314G>C MANE Select	ENSP00000355533.2:p.Gly4772Arg
ENST00000360064.7:c.14263G>C	ENSP00000353174.7:p.Gly4755Arg
ENST00000366574.6:c.14314G>C	ENSP00000355533.2:p.Gly4772Arg
ENST00000608590.5:n.825G>C
NM_001035.2:c.14314G>C	NP_001026.2:p.Gly4772Arg
XM_006711802.2:c.14368G>C	XP_006711865.1:p.Gly4790Arg
XM_006711803.2:c.14365G>C	XP_006711866.1:p.Gly4789Arg
XM_006711804.2:c.14344G>C	XP_006711867.1:p.Gly4782Arg
XM_006711805.2:c.14338G>C	XP_006711868.1:p.Gly4780Arg
XM_006711806.2:c.14332G>C	XP_006711869.1:p.Gly4778Arg
XM_006711807.2:c.14308G>C	XP_006711870.1:p.Gly4770Arg
XM_006711808.2:c.14131G>C	XP_006711871.1:p.Gly4711Arg
XM_006711810.2:c.14275G>C	XP_006711873.1:p.Gly4759Arg
XM_006711802.3:c.14368G>C	XP_006711865.1:p.Gly4790Arg
XM_006711803.3:c.14365G>C	XP_006711866.1:p.Gly4789Arg
XM_006711804.3:c.14344G>C	XP_006711867.1:p.Gly4782Arg
XM_006711805.3:c.14338G>C	XP_006711868.1:p.Gly4780Arg
XM_006711806.3:c.14332G>C	XP_006711869.1:p.Gly4778Arg
XM_006711807.3:c.14308G>C	XP_006711870.1:p.Gly4770Arg
XM_006711808.3:c.14131G>C	XP_006711871.1:p.Gly4711Arg
XM_006711810.3:c.14275G>C	XP_006711873.1:p.Gly4759Arg
XM_017002028.1:c.14347G>C	XP_016857517.1:p.Gly4783Arg
NM_001035.3:c.14314G>C MANE Select	NP_001026.2:p.Gly4772Arg