Canonical Allele Identifier: CA345413529

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947529A>G (hg19) ; chr1:g.237784229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784229A>G , CM000663.2:g.237784229A>G	GRCh38
NC_000001.10:g.237947529A>G , CM000663.1:g.237947529A>G	GRCh37
NC_000001.9:g.236014152A>G	NCBI36
NG_008799.2:g.746828A>G
NG_008799.3:g.747046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3609A>G	ENSP00000499659.2:n.*3609A>G
ENST00000659194.3:c.12505A>G	ENSP00000499653.3:p.Ile4169Val
ENST00000660292.2:c.12538A>G	ENSP00000499787.2:p.Ile4180Val
ENST00000659194.2:c.4694A>G
ENST00000366574.7:c.12517A>G MANE Select	ENSP00000355533.2:p.Ile4173Val
ENST00000659194.1:c.4694A>G
ENST00000660292.1:c.2570A>G
ENST00000360064.7:c.12469A>G	ENSP00000353174.7:p.Ile4157Val
ENST00000366574.6:c.12517A>G	ENSP00000355533.2:p.Ile4173Val
ENST00000609119.1:n.3712A>G
NM_001035.2:c.12517A>G	NP_001026.2:p.Ile4173Val
XM_006711802.2:c.12571A>G	XP_006711865.1:p.Ile4191Val
XM_006711803.2:c.12568A>G	XP_006711866.1:p.Ile4190Val
XM_006711804.2:c.12547A>G	XP_006711867.1:p.Ile4183Val
XM_006711805.2:c.12541A>G	XP_006711868.1:p.Ile4181Val
XM_006711806.2:c.12535A>G	XP_006711869.1:p.Ile4179Val
XM_006711807.2:c.12511A>G	XP_006711870.1:p.Ile4171Val
XM_006711808.2:c.12334A>G	XP_006711871.1:p.Ile4112Val
XM_006711810.2:c.12478A>G	XP_006711873.1:p.Ile4160Val
XM_006711802.3:c.12571A>G	XP_006711865.1:p.Ile4191Val
XM_006711803.3:c.12568A>G	XP_006711866.1:p.Ile4190Val
XM_006711804.3:c.12547A>G	XP_006711867.1:p.Ile4183Val
XM_006711805.3:c.12541A>G	XP_006711868.1:p.Ile4181Val
XM_006711806.3:c.12535A>G	XP_006711869.1:p.Ile4179Val
XM_006711807.3:c.12511A>G	XP_006711870.1:p.Ile4171Val
XM_006711808.3:c.12334A>G	XP_006711871.1:p.Ile4112Val
XM_006711810.3:c.12478A>G	XP_006711873.1:p.Ile4160Val
XM_017002028.1:c.12550A>G	XP_016857517.1:p.Ile4184Val
NM_001035.3:c.12517A>G MANE Select	NP_001026.2:p.Ile4173Val