Canonical Allele Identifier: CA345407229

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772078T>C , CM000663.2:g.237772078T>C	GRCh38
NC_000001.10:g.237935378T>C , CM000663.1:g.237935378T>C	GRCh37
NC_000001.9:g.236002001T>C	NCBI36
NG_008799.2:g.734677T>C
NG_008799.3:g.734895T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11624T>C MANE Select	NP_001026.2:p.Val3875Ala
ENST00000366574.7:c.11624T>C MANE Select	ENSP00000355533.2:p.Val3875Ala
NM_001035.2:c.11624T>C	NP_001026.2:p.Val3875Ala
ENST00000360064.7:c.11576T>C	ENSP00000353174.7:p.Val3859Ala
ENST00000366574.6:c.11624T>C	ENSP00000355533.2:p.Val3875Ala
ENST00000609119.1:n.2819T>C
ENST00000609119.2:c.*2716T>C	ENSP00000499659.2:n.*2716T>C
ENST00000659194.1:c.3801T>C
ENST00000659194.2:c.3801T>C
ENST00000659194.3:c.11612T>C	ENSP00000499653.3:p.Val3871Ala
ENST00000660292.1:c.1677T>C
ENST00000660292.2:c.11645T>C	ENSP00000499787.2:p.Val3882Ala
XM_006711802.2:c.11678T>C	XP_006711865.1:p.Val3893Ala
XM_006711802.3:c.11678T>C	XP_006711865.1:p.Val3893Ala
XM_006711803.2:c.11675T>C	XP_006711866.1:p.Val3892Ala
XM_006711803.3:c.11675T>C	XP_006711866.1:p.Val3892Ala
XM_006711804.2:c.11654T>C	XP_006711867.1:p.Val3885Ala
XM_006711804.3:c.11654T>C	XP_006711867.1:p.Val3885Ala
XM_006711805.2:c.11648T>C	XP_006711868.1:p.Val3883Ala
XM_006711805.3:c.11648T>C	XP_006711868.1:p.Val3883Ala
XM_006711806.2:c.11642T>C	XP_006711869.1:p.Val3881Ala
XM_006711806.3:c.11642T>C	XP_006711869.1:p.Val3881Ala
XM_006711807.2:c.11618T>C	XP_006711870.1:p.Val3873Ala
XM_006711807.3:c.11618T>C	XP_006711870.1:p.Val3873Ala
XM_006711808.2:c.11441T>C	XP_006711871.1:p.Val3814Ala
XM_006711808.3:c.11441T>C	XP_006711871.1:p.Val3814Ala
XM_006711810.2:c.11585T>C	XP_006711873.1:p.Val3862Ala
XM_006711810.3:c.11585T>C	XP_006711873.1:p.Val3862Ala
XM_017002028.1:c.11657T>C	XP_016857517.1:p.Val3886Ala