Canonical Allele Identifier: CA345413069

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784082A>C , CM000663.2:g.237784082A>C	GRCh38
NC_000001.10:g.237947382A>C , CM000663.1:g.237947382A>C	GRCh37
NC_000001.9:g.236014005A>C	NCBI36
NG_008799.2:g.746681A>C
NG_008799.3:g.746899A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3462A>C	ENSP00000499659.2:n.*3462A>C
ENST00000659194.3:c.12358A>C	ENSP00000499653.3:p.Ser4120Arg
ENST00000660292.2:c.12391A>C	ENSP00000499787.2:p.Ser4131Arg
ENST00000659194.2:c.4547A>C
ENST00000366574.7:c.12370A>C MANE Select	ENSP00000355533.2:p.Ser4124Arg
ENST00000659194.1:c.4547A>C
ENST00000660292.1:c.2423A>C
ENST00000360064.7:c.12322A>C	ENSP00000353174.7:p.Ser4108Arg
ENST00000366574.6:c.12370A>C	ENSP00000355533.2:p.Ser4124Arg
ENST00000609119.1:n.3565A>C
NM_001035.2:c.12370A>C	NP_001026.2:p.Ser4124Arg
XM_006711802.2:c.12424A>C	XP_006711865.1:p.Ser4142Arg
XM_006711803.2:c.12421A>C	XP_006711866.1:p.Ser4141Arg
XM_006711804.2:c.12400A>C	XP_006711867.1:p.Ser4134Arg
XM_006711805.2:c.12394A>C	XP_006711868.1:p.Ser4132Arg
XM_006711806.2:c.12388A>C	XP_006711869.1:p.Ser4130Arg
XM_006711807.2:c.12364A>C	XP_006711870.1:p.Ser4122Arg
XM_006711808.2:c.12187A>C	XP_006711871.1:p.Ser4063Arg
XM_006711810.2:c.12331A>C	XP_006711873.1:p.Ser4111Arg
XM_006711802.3:c.12424A>C	XP_006711865.1:p.Ser4142Arg
XM_006711803.3:c.12421A>C	XP_006711866.1:p.Ser4141Arg
XM_006711804.3:c.12400A>C	XP_006711867.1:p.Ser4134Arg
XM_006711805.3:c.12394A>C	XP_006711868.1:p.Ser4132Arg
XM_006711806.3:c.12388A>C	XP_006711869.1:p.Ser4130Arg
XM_006711807.3:c.12364A>C	XP_006711870.1:p.Ser4122Arg
XM_006711808.3:c.12187A>C	XP_006711871.1:p.Ser4063Arg
XM_006711810.3:c.12331A>C	XP_006711873.1:p.Ser4111Arg
XM_017002028.1:c.12403A>C	XP_016857517.1:p.Ser4135Arg
NM_001035.3:c.12370A>C MANE Select	NP_001026.2:p.Ser4124Arg