Canonical Allele Identifier: CA345413281

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3537T>A	ENSP00000499659.2:n.*3537T>A
ENST00000659194.3:c.12433T>A	ENSP00000499653.3:p.Tyr4145Asn
ENST00000660292.2:c.12466T>A	ENSP00000499787.2:p.Tyr4156Asn
ENST00000659194.2:c.4622T>A
ENST00000366574.7:c.12445T>A MANE Select	ENSP00000355533.2:p.Tyr4149Asn
ENST00000659194.1:c.4622T>A
ENST00000660292.1:c.2498T>A
ENST00000360064.7:c.12397T>A	ENSP00000353174.7:p.Tyr4133Asn
ENST00000366574.6:c.12445T>A	ENSP00000355533.2:p.Tyr4149Asn
ENST00000609119.1:n.3640T>A
NM_001035.2:c.12445T>A	NP_001026.2:p.Tyr4149Asn
XM_006711802.2:c.12499T>A	XP_006711865.1:p.Tyr4167Asn
XM_006711803.2:c.12496T>A	XP_006711866.1:p.Tyr4166Asn
XM_006711804.2:c.12475T>A	XP_006711867.1:p.Tyr4159Asn
XM_006711805.2:c.12469T>A	XP_006711868.1:p.Tyr4157Asn
XM_006711806.2:c.12463T>A	XP_006711869.1:p.Tyr4155Asn
XM_006711807.2:c.12439T>A	XP_006711870.1:p.Tyr4147Asn
XM_006711808.2:c.12262T>A	XP_006711871.1:p.Tyr4088Asn
XM_006711810.2:c.12406T>A	XP_006711873.1:p.Tyr4136Asn
XM_006711802.3:c.12499T>A	XP_006711865.1:p.Tyr4167Asn
XM_006711803.3:c.12496T>A	XP_006711866.1:p.Tyr4166Asn
XM_006711804.3:c.12475T>A	XP_006711867.1:p.Tyr4159Asn
XM_006711805.3:c.12469T>A	XP_006711868.1:p.Tyr4157Asn
XM_006711806.3:c.12463T>A	XP_006711869.1:p.Tyr4155Asn
XM_006711807.3:c.12439T>A	XP_006711870.1:p.Tyr4147Asn
XM_006711808.3:c.12262T>A	XP_006711871.1:p.Tyr4088Asn
XM_006711810.3:c.12406T>A	XP_006711873.1:p.Tyr4136Asn
XM_017002028.1:c.12478T>A	XP_016857517.1:p.Tyr4160Asn
NM_001035.3:c.12445T>A MANE Select	NP_001026.2:p.Tyr4149Asn