Canonical Allele Identifier: CA345413704

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947605T>G (hg19) ; chr1:g.237784305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784305T>G , CM000663.2:g.237784305T>G	GRCh38
NC_000001.10:g.237947605T>G , CM000663.1:g.237947605T>G	GRCh37
NC_000001.9:g.236014228T>G	NCBI36
NG_008799.2:g.746904T>G
NG_008799.3:g.747122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3685T>G	ENSP00000499659.2:n.*3685T>G
ENST00000659194.3:c.12581T>G	ENSP00000499653.3:p.Phe4194Cys
ENST00000660292.2:c.12614T>G	ENSP00000499787.2:p.Phe4205Cys
ENST00000659194.2:c.4770T>G
ENST00000366574.7:c.12593T>G MANE Select	ENSP00000355533.2:p.Phe4198Cys
ENST00000659194.1:c.4770T>G
ENST00000660292.1:c.2646T>G
ENST00000360064.7:c.12545T>G	ENSP00000353174.7:p.Phe4182Cys
ENST00000366574.6:c.12593T>G	ENSP00000355533.2:p.Phe4198Cys
ENST00000609119.1:n.3788T>G
NM_001035.2:c.12593T>G	NP_001026.2:p.Phe4198Cys
XM_006711802.2:c.12647T>G	XP_006711865.1:p.Phe4216Cys
XM_006711803.2:c.12644T>G	XP_006711866.1:p.Phe4215Cys
XM_006711804.2:c.12623T>G	XP_006711867.1:p.Phe4208Cys
XM_006711805.2:c.12617T>G	XP_006711868.1:p.Phe4206Cys
XM_006711806.2:c.12611T>G	XP_006711869.1:p.Phe4204Cys
XM_006711807.2:c.12587T>G	XP_006711870.1:p.Phe4196Cys
XM_006711808.2:c.12410T>G	XP_006711871.1:p.Phe4137Cys
XM_006711810.2:c.12554T>G	XP_006711873.1:p.Phe4185Cys
XM_006711802.3:c.12647T>G	XP_006711865.1:p.Phe4216Cys
XM_006711803.3:c.12644T>G	XP_006711866.1:p.Phe4215Cys
XM_006711804.3:c.12623T>G	XP_006711867.1:p.Phe4208Cys
XM_006711805.3:c.12617T>G	XP_006711868.1:p.Phe4206Cys
XM_006711806.3:c.12611T>G	XP_006711869.1:p.Phe4204Cys
XM_006711807.3:c.12587T>G	XP_006711870.1:p.Phe4196Cys
XM_006711808.3:c.12410T>G	XP_006711871.1:p.Phe4137Cys
XM_006711810.3:c.12554T>G	XP_006711873.1:p.Phe4185Cys
XM_017002028.1:c.12626T>G	XP_016857517.1:p.Phe4209Cys
NM_001035.3:c.12593T>G MANE Select	NP_001026.2:p.Phe4198Cys