Canonical Allele Identifier: CA011262

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237706987A>G , CM000663.2:g.237706987A>G	GRCh38
NC_000001.10:g.237870287A>G , CM000663.1:g.237870287A>G	GRCh37
NC_000001.9:g.235936910A>G	NCBI36
NG_008799.2:g.669586A>G
NG_008799.3:g.669804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*654A>G	ENSP00000499659.2:n.*654A>G
ENST00000659194.3:c.9619A>G	ENSP00000499653.3:p.Asn3207Asp
ENST00000660292.2:c.9619A>G	ENSP00000499787.2:p.Asn3207Asp
ENST00000659194.2:c.1808A>G
ENST00000366574.7:c.9619A>G MANE Select	ENSP00000355533.2:p.Asn3207Asp
ENST00000659194.1:c.1808A>G
ENST00000360064.7:c.9571A>G	ENSP00000353174.7:p.Asn3191Asp
ENST00000366574.6:c.9619A>G	ENSP00000355533.2:p.Asn3207Asp
ENST00000609119.1:n.757A>G
NM_001035.2:c.9619A>G	NP_001026.2:p.Asn3207Asp
XM_006711802.2:c.9649A>G	XP_006711865.1:p.Asn3217Asp
XM_006711803.2:c.9646A>G	XP_006711866.1:p.Asn3216Asp
XM_006711804.2:c.9649A>G	XP_006711867.1:p.Asn3217Asp
XM_006711805.2:c.9619A>G	XP_006711868.1:p.Asn3207Asp
XM_006711806.2:c.9649A>G	XP_006711869.1:p.Asn3217Asp
XM_006711807.2:c.9649A>G	XP_006711870.1:p.Asn3217Asp
XM_006711808.2:c.9412A>G	XP_006711871.1:p.Asn3138Asp
XM_006711810.2:c.9616A>G	XP_006711873.1:p.Asn3206Asp
XM_006711802.3:c.9649A>G	XP_006711865.1:p.Asn3217Asp
XM_006711803.3:c.9646A>G	XP_006711866.1:p.Asn3216Asp
XM_006711804.3:c.9649A>G	XP_006711867.1:p.Asn3217Asp
XM_006711805.3:c.9619A>G	XP_006711868.1:p.Asn3207Asp
XM_006711806.3:c.9649A>G	XP_006711869.1:p.Asn3217Asp
XM_006711807.3:c.9649A>G	XP_006711870.1:p.Asn3217Asp
XM_006711808.3:c.9412A>G	XP_006711871.1:p.Asn3138Asp
XM_006711810.3:c.9616A>G	XP_006711873.1:p.Asn3206Asp
XM_017002028.1:c.9628A>G	XP_016857517.1:p.Asn3210Asp
NM_001035.3:c.9619A>G MANE Select	NP_001026.2:p.Asn3207Asp