Canonical Allele Identifier: CA345413530

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3609A>T	ENSP00000499659.2:n.*3609A>T
ENST00000659194.3:c.12505A>T	ENSP00000499653.3:p.Ile4169Leu
ENST00000660292.2:c.12538A>T	ENSP00000499787.2:p.Ile4180Leu
ENST00000659194.2:c.4694A>T
ENST00000366574.7:c.12517A>T MANE Select	ENSP00000355533.2:p.Ile4173Leu
ENST00000659194.1:c.4694A>T
ENST00000660292.1:c.2570A>T
ENST00000360064.7:c.12469A>T	ENSP00000353174.7:p.Ile4157Leu
ENST00000366574.6:c.12517A>T	ENSP00000355533.2:p.Ile4173Leu
ENST00000609119.1:n.3712A>T
NM_001035.2:c.12517A>T	NP_001026.2:p.Ile4173Leu
XM_006711802.2:c.12571A>T	XP_006711865.1:p.Ile4191Leu
XM_006711803.2:c.12568A>T	XP_006711866.1:p.Ile4190Leu
XM_006711804.2:c.12547A>T	XP_006711867.1:p.Ile4183Leu
XM_006711805.2:c.12541A>T	XP_006711868.1:p.Ile4181Leu
XM_006711806.2:c.12535A>T	XP_006711869.1:p.Ile4179Leu
XM_006711807.2:c.12511A>T	XP_006711870.1:p.Ile4171Leu
XM_006711808.2:c.12334A>T	XP_006711871.1:p.Ile4112Leu
XM_006711810.2:c.12478A>T	XP_006711873.1:p.Ile4160Leu
XM_006711802.3:c.12571A>T	XP_006711865.1:p.Ile4191Leu
XM_006711803.3:c.12568A>T	XP_006711866.1:p.Ile4190Leu
XM_006711804.3:c.12547A>T	XP_006711867.1:p.Ile4183Leu
XM_006711805.3:c.12541A>T	XP_006711868.1:p.Ile4181Leu
XM_006711806.3:c.12535A>T	XP_006711869.1:p.Ile4179Leu
XM_006711807.3:c.12511A>T	XP_006711870.1:p.Ile4171Leu
XM_006711808.3:c.12334A>T	XP_006711871.1:p.Ile4112Leu
XM_006711810.3:c.12478A>T	XP_006711873.1:p.Ile4160Leu
XM_017002028.1:c.12550A>T	XP_016857517.1:p.Ile4184Leu
NM_001035.3:c.12517A>T MANE Select	NP_001026.2:p.Ile4173Leu