Canonical Allele Identifier: CA006987

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237759848T>A , CM000663.2:g.237759848T>A	GRCh38
NC_000001.10:g.237923148T>A , CM000663.1:g.237923148T>A	GRCh37
NC_000001.9:g.235989771T>A	NCBI36
NG_008799.2:g.722447T>A
NG_008799.3:g.722665T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11398T>A MANE Select	NP_001026.2:p.Cys3800Ser
ENST00000366574.7:c.11398T>A MANE Select	ENSP00000355533.2:p.Cys3800Ser
NM_001035.2:c.11398T>A	NP_001026.2:p.Cys3800Ser
ENST00000360064.7:c.11350T>A	ENSP00000353174.7:p.Cys3784Ser
ENST00000366574.6:c.11398T>A	ENSP00000355533.2:p.Cys3800Ser
ENST00000609119.1:n.2593T>A
ENST00000609119.2:c.*2490T>A	ENSP00000499659.2:n.*2490T>A
ENST00000659194.1:c.3575T>A
ENST00000659194.2:c.3575T>A
ENST00000659194.3:c.11386T>A	ENSP00000499653.3:p.Cys3796Ser
ENST00000660292.1:c.1418T>A
ENST00000660292.2:c.11386T>A	ENSP00000499787.2:p.Cys3796Ser
XM_006711802.2:c.11452T>A	XP_006711865.1:p.Cys3818Ser
XM_006711802.3:c.11452T>A	XP_006711865.1:p.Cys3818Ser
XM_006711803.2:c.11449T>A	XP_006711866.1:p.Cys3817Ser
XM_006711803.3:c.11449T>A	XP_006711866.1:p.Cys3817Ser
XM_006711804.2:c.11428T>A	XP_006711867.1:p.Cys3810Ser
XM_006711804.3:c.11428T>A	XP_006711867.1:p.Cys3810Ser
XM_006711805.2:c.11422T>A	XP_006711868.1:p.Cys3808Ser
XM_006711805.3:c.11422T>A	XP_006711868.1:p.Cys3808Ser
XM_006711806.2:c.11416T>A	XP_006711869.1:p.Cys3806Ser
XM_006711806.3:c.11416T>A	XP_006711869.1:p.Cys3806Ser
XM_006711807.2:c.11392T>A	XP_006711870.1:p.Cys3798Ser
XM_006711807.3:c.11392T>A	XP_006711870.1:p.Cys3798Ser
XM_006711808.2:c.11215T>A	XP_006711871.1:p.Cys3739Ser
XM_006711808.3:c.11215T>A	XP_006711871.1:p.Cys3739Ser
XM_006711810.2:c.11359T>A	XP_006711873.1:p.Cys3787Ser
XM_006711810.3:c.11359T>A	XP_006711873.1:p.Cys3787Ser
XM_017002028.1:c.11431T>A	XP_016857517.1:p.Cys3811Ser