Canonical Allele Identifier: CA345411860

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783713G>A , CM000663.2:g.237783713G>A	GRCh38
NC_000001.10:g.237947013G>A , CM000663.1:g.237947013G>A	GRCh37
NC_000001.9:g.236013636G>A	NCBI36
NG_008799.2:g.746312G>A
NG_008799.3:g.746530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12001G>A MANE Select	NP_001026.2:p.Asp4001Asn
ENST00000366574.7:c.12001G>A MANE Select	ENSP00000355533.2:p.Asp4001Asn
NM_001035.2:c.12001G>A	NP_001026.2:p.Asp4001Asn
ENST00000360064.7:c.11953G>A	ENSP00000353174.7:p.Asp3985Asn
ENST00000366574.6:c.12001G>A	ENSP00000355533.2:p.Asp4001Asn
ENST00000609119.1:n.3196G>A
ENST00000609119.2:c.*3093G>A	ENSP00000499659.2:n.*3093G>A
ENST00000659194.1:c.4178G>A
ENST00000659194.2:c.4178G>A
ENST00000659194.3:c.11989G>A	ENSP00000499653.3:p.Asp3997Asn
ENST00000660292.1:c.2054G>A
ENST00000660292.2:c.12022G>A	ENSP00000499787.2:p.Asp4008Asn
XM_006711802.2:c.12055G>A	XP_006711865.1:p.Asp4019Asn
XM_006711802.3:c.12055G>A	XP_006711865.1:p.Asp4019Asn
XM_006711803.2:c.12052G>A	XP_006711866.1:p.Asp4018Asn
XM_006711803.3:c.12052G>A	XP_006711866.1:p.Asp4018Asn
XM_006711804.2:c.12031G>A	XP_006711867.1:p.Asp4011Asn
XM_006711804.3:c.12031G>A	XP_006711867.1:p.Asp4011Asn
XM_006711805.2:c.12025G>A	XP_006711868.1:p.Asp4009Asn
XM_006711805.3:c.12025G>A	XP_006711868.1:p.Asp4009Asn
XM_006711806.2:c.12019G>A	XP_006711869.1:p.Asp4007Asn
XM_006711806.3:c.12019G>A	XP_006711869.1:p.Asp4007Asn
XM_006711807.2:c.11995G>A	XP_006711870.1:p.Asp3999Asn
XM_006711807.3:c.11995G>A	XP_006711870.1:p.Asp3999Asn
XM_006711808.2:c.11818G>A	XP_006711871.1:p.Asp3940Asn
XM_006711808.3:c.11818G>A	XP_006711871.1:p.Asp3940Asn
XM_006711810.2:c.11962G>A	XP_006711873.1:p.Asp3988Asn
XM_006711810.3:c.11962G>A	XP_006711873.1:p.Asp3988Asn
XM_017002028.1:c.12034G>A	XP_016857517.1:p.Asp4012Asn