Canonical Allele Identifier: CA345429015

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237759849G>C , CM000663.2:g.237759849G>C	GRCh38
NC_000001.10:g.237923149G>C , CM000663.1:g.237923149G>C	GRCh37
NC_000001.9:g.235989772G>C	NCBI36
NG_008799.2:g.722448G>C
NG_008799.3:g.722666G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11399G>C MANE Select	NP_001026.2:p.Cys3800Ser
ENST00000366574.7:c.11399G>C MANE Select	ENSP00000355533.2:p.Cys3800Ser
NM_001035.2:c.11399G>C	NP_001026.2:p.Cys3800Ser
ENST00000360064.7:c.11351G>C	ENSP00000353174.7:p.Cys3784Ser
ENST00000366574.6:c.11399G>C	ENSP00000355533.2:p.Cys3800Ser
ENST00000609119.1:n.2594G>C
ENST00000609119.2:c.*2491G>C	ENSP00000499659.2:n.*2491G>C
ENST00000659194.1:c.3576G>C
ENST00000659194.2:c.3576G>C
ENST00000659194.3:c.11387G>C	ENSP00000499653.3:p.Cys3796Ser
ENST00000660292.1:c.1419G>C
ENST00000660292.2:c.11387G>C	ENSP00000499787.2:p.Cys3796Ser
XM_006711802.2:c.11453G>C	XP_006711865.1:p.Cys3818Ser
XM_006711802.3:c.11453G>C	XP_006711865.1:p.Cys3818Ser
XM_006711803.2:c.11450G>C	XP_006711866.1:p.Cys3817Ser
XM_006711803.3:c.11450G>C	XP_006711866.1:p.Cys3817Ser
XM_006711804.2:c.11429G>C	XP_006711867.1:p.Cys3810Ser
XM_006711804.3:c.11429G>C	XP_006711867.1:p.Cys3810Ser
XM_006711805.2:c.11423G>C	XP_006711868.1:p.Cys3808Ser
XM_006711805.3:c.11423G>C	XP_006711868.1:p.Cys3808Ser
XM_006711806.2:c.11417G>C	XP_006711869.1:p.Cys3806Ser
XM_006711806.3:c.11417G>C	XP_006711869.1:p.Cys3806Ser
XM_006711807.2:c.11393G>C	XP_006711870.1:p.Cys3798Ser
XM_006711807.3:c.11393G>C	XP_006711870.1:p.Cys3798Ser
XM_006711808.2:c.11216G>C	XP_006711871.1:p.Cys3739Ser
XM_006711808.3:c.11216G>C	XP_006711871.1:p.Cys3739Ser
XM_006711810.2:c.11360G>C	XP_006711873.1:p.Cys3787Ser
XM_006711810.3:c.11360G>C	XP_006711873.1:p.Cys3787Ser
XM_017002028.1:c.11432G>C	XP_016857517.1:p.Cys3811Ser