Canonical Allele Identifier: CA085181

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784136G>A , CM000663.2:g.237784136G>A	GRCh38
NC_000001.10:g.237947436G>A , CM000663.1:g.237947436G>A	GRCh37
NC_000001.9:g.236014059G>A	NCBI36
NG_008799.2:g.746735G>A
NG_008799.3:g.746953G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12424G>A MANE Select	NP_001026.2:p.Ala4142Thr
ENST00000366574.7:c.12424G>A MANE Select	ENSP00000355533.2:p.Ala4142Thr
NM_001035.2:c.12424G>A	NP_001026.2:p.Ala4142Thr
ENST00000360064.7:c.12376G>A	ENSP00000353174.7:p.Ala4126Thr
ENST00000366574.6:c.12424G>A	ENSP00000355533.2:p.Ala4142Thr
ENST00000609119.1:n.3619G>A
ENST00000609119.2:c.*3516G>A	ENSP00000499659.2:n.*3516G>A
ENST00000659194.1:c.4601G>A
ENST00000659194.2:c.4601G>A
ENST00000659194.3:c.12412G>A	ENSP00000499653.3:p.Ala4138Thr
ENST00000660292.1:c.2477G>A
ENST00000660292.2:c.12445G>A	ENSP00000499787.2:p.Ala4149Thr
XM_006711802.2:c.12478G>A	XP_006711865.1:p.Ala4160Thr
XM_006711802.3:c.12478G>A	XP_006711865.1:p.Ala4160Thr
XM_006711803.2:c.12475G>A	XP_006711866.1:p.Ala4159Thr
XM_006711803.3:c.12475G>A	XP_006711866.1:p.Ala4159Thr
XM_006711804.2:c.12454G>A	XP_006711867.1:p.Ala4152Thr
XM_006711804.3:c.12454G>A	XP_006711867.1:p.Ala4152Thr
XM_006711805.2:c.12448G>A	XP_006711868.1:p.Ala4150Thr
XM_006711805.3:c.12448G>A	XP_006711868.1:p.Ala4150Thr
XM_006711806.2:c.12442G>A	XP_006711869.1:p.Ala4148Thr
XM_006711806.3:c.12442G>A	XP_006711869.1:p.Ala4148Thr
XM_006711807.2:c.12418G>A	XP_006711870.1:p.Ala4140Thr
XM_006711807.3:c.12418G>A	XP_006711870.1:p.Ala4140Thr
XM_006711808.2:c.12241G>A	XP_006711871.1:p.Ala4081Thr
XM_006711808.3:c.12241G>A	XP_006711871.1:p.Ala4081Thr
XM_006711810.2:c.12385G>A	XP_006711873.1:p.Ala4129Thr
XM_006711810.3:c.12385G>A	XP_006711873.1:p.Ala4129Thr
XM_017002028.1:c.12457G>A	XP_016857517.1:p.Ala4153Thr