Canonical Allele Identifier: CA345424306

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2772585
• ClinVar RCV Id: RCV003526623
• MyVariant Identifiers: chr1:g.237972271G>T (hg19) ; chr1:g.237808971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808971G>T , CM000663.2:g.237808971G>T	GRCh38
NC_000001.10:g.237972271G>T , CM000663.1:g.237972271G>T	GRCh37
NC_000001.9:g.236038894G>T	NCBI36
NG_008799.2:g.771570G>T
NG_008799.3:g.771788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5461G>T	ENSP00000499659.2:n.*5461G>T
ENST00000659194.3:c.14351G>T	ENSP00000499653.3:p.Arg4784Leu
ENST00000660292.2:c.14390G>T	ENSP00000499787.2:p.Arg4797Leu
ENST00000659194.2:c.6540G>T
ENST00000366574.7:c.14369G>T MANE Select	ENSP00000355533.2:p.Arg4790Leu
ENST00000360064.7:c.14318G>T	ENSP00000353174.7:p.Arg4773Leu
ENST00000366574.6:c.14369G>T	ENSP00000355533.2:p.Arg4790Leu
ENST00000608590.5:n.880G>T
NM_001035.2:c.14369G>T	NP_001026.2:p.Arg4790Leu
XM_006711802.2:c.14423G>T	XP_006711865.1:p.Arg4808Leu
XM_006711803.2:c.14420G>T	XP_006711866.1:p.Arg4807Leu
XM_006711804.2:c.14399G>T	XP_006711867.1:p.Arg4800Leu
XM_006711805.2:c.14393G>T	XP_006711868.1:p.Arg4798Leu
XM_006711806.2:c.14387G>T	XP_006711869.1:p.Arg4796Leu
XM_006711807.2:c.14363G>T	XP_006711870.1:p.Arg4788Leu
XM_006711808.2:c.14186G>T	XP_006711871.1:p.Arg4729Leu
XM_006711810.2:c.14330G>T	XP_006711873.1:p.Arg4777Leu
XM_006711802.3:c.14423G>T	XP_006711865.1:p.Arg4808Leu
XM_006711803.3:c.14420G>T	XP_006711866.1:p.Arg4807Leu
XM_006711804.3:c.14399G>T	XP_006711867.1:p.Arg4800Leu
XM_006711805.3:c.14393G>T	XP_006711868.1:p.Arg4798Leu
XM_006711806.3:c.14387G>T	XP_006711869.1:p.Arg4796Leu
XM_006711807.3:c.14363G>T	XP_006711870.1:p.Arg4788Leu
XM_006711808.3:c.14186G>T	XP_006711871.1:p.Arg4729Leu
XM_006711810.3:c.14330G>T	XP_006711873.1:p.Arg4777Leu
XM_017002028.1:c.14402G>T	XP_016857517.1:p.Arg4801Leu
NM_001035.3:c.14369G>T MANE Select	NP_001026.2:p.Arg4790Leu