Canonical Allele Identifier: CA345413283

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947457T>G (hg19) ; chr1:g.237784157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784157T>G , CM000663.2:g.237784157T>G	GRCh38
NC_000001.10:g.237947457T>G , CM000663.1:g.237947457T>G	GRCh37
NC_000001.9:g.236014080T>G	NCBI36
NG_008799.2:g.746756T>G
NG_008799.3:g.746974T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3537T>G	ENSP00000499659.2:n.*3537T>G
ENST00000659194.3:c.12433T>G	ENSP00000499653.3:p.Tyr4145Asp
ENST00000660292.2:c.12466T>G	ENSP00000499787.2:p.Tyr4156Asp
ENST00000659194.2:c.4622T>G
ENST00000366574.7:c.12445T>G MANE Select	ENSP00000355533.2:p.Tyr4149Asp
ENST00000659194.1:c.4622T>G
ENST00000660292.1:c.2498T>G
ENST00000360064.7:c.12397T>G	ENSP00000353174.7:p.Tyr4133Asp
ENST00000366574.6:c.12445T>G	ENSP00000355533.2:p.Tyr4149Asp
ENST00000609119.1:n.3640T>G
NM_001035.2:c.12445T>G	NP_001026.2:p.Tyr4149Asp
XM_006711802.2:c.12499T>G	XP_006711865.1:p.Tyr4167Asp
XM_006711803.2:c.12496T>G	XP_006711866.1:p.Tyr4166Asp
XM_006711804.2:c.12475T>G	XP_006711867.1:p.Tyr4159Asp
XM_006711805.2:c.12469T>G	XP_006711868.1:p.Tyr4157Asp
XM_006711806.2:c.12463T>G	XP_006711869.1:p.Tyr4155Asp
XM_006711807.2:c.12439T>G	XP_006711870.1:p.Tyr4147Asp
XM_006711808.2:c.12262T>G	XP_006711871.1:p.Tyr4088Asp
XM_006711810.2:c.12406T>G	XP_006711873.1:p.Tyr4136Asp
XM_006711802.3:c.12499T>G	XP_006711865.1:p.Tyr4167Asp
XM_006711803.3:c.12496T>G	XP_006711866.1:p.Tyr4166Asp
XM_006711804.3:c.12475T>G	XP_006711867.1:p.Tyr4159Asp
XM_006711805.3:c.12469T>G	XP_006711868.1:p.Tyr4157Asp
XM_006711806.3:c.12463T>G	XP_006711869.1:p.Tyr4155Asp
XM_006711807.3:c.12439T>G	XP_006711870.1:p.Tyr4147Asp
XM_006711808.3:c.12262T>G	XP_006711871.1:p.Tyr4088Asp
XM_006711810.3:c.12406T>G	XP_006711873.1:p.Tyr4136Asp
XM_017002028.1:c.12478T>G	XP_016857517.1:p.Tyr4160Asp
NM_001035.3:c.12445T>G MANE Select	NP_001026.2:p.Tyr4149Asp