Canonical Allele Identifier: CA345418613

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237795312A>C , CM000663.2:g.237795312A>C	GRCh38
NC_000001.10:g.237958612A>C , CM000663.1:g.237958612A>C	GRCh37
NC_000001.9:g.236025235A>C	NCBI36
NG_008799.2:g.757911A>C
NG_008799.3:g.758129A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13937A>C MANE Select	NP_001026.2:p.Asp4646Ala
ENST00000366574.7:c.13937A>C MANE Select	ENSP00000355533.2:p.Asp4646Ala
NM_001035.2:c.13937A>C	NP_001026.2:p.Asp4646Ala
ENST00000360064.7:c.13886A>C	ENSP00000353174.7:p.Asp4629Ala
ENST00000366574.6:c.13937A>C	ENSP00000355533.2:p.Asp4646Ala
ENST00000608590.5:n.448A>C
ENST00000609119.2:c.*5029A>C	ENSP00000499659.2:n.*5029A>C
ENST00000659194.2:c.6108A>C
ENST00000659194.3:c.13919A>C	ENSP00000499653.3:p.Asp4640Ala
ENST00000660292.2:c.13958A>C	ENSP00000499787.2:p.Asp4653Ala
XM_006711802.2:c.13991A>C	XP_006711865.1:p.Asp4664Ala
XM_006711802.3:c.13991A>C	XP_006711865.1:p.Asp4664Ala
XM_006711803.2:c.13988A>C	XP_006711866.1:p.Asp4663Ala
XM_006711803.3:c.13988A>C	XP_006711866.1:p.Asp4663Ala
XM_006711804.2:c.13967A>C	XP_006711867.1:p.Asp4656Ala
XM_006711804.3:c.13967A>C	XP_006711867.1:p.Asp4656Ala
XM_006711805.2:c.13961A>C	XP_006711868.1:p.Asp4654Ala
XM_006711805.3:c.13961A>C	XP_006711868.1:p.Asp4654Ala
XM_006711806.2:c.13955A>C	XP_006711869.1:p.Asp4652Ala
XM_006711806.3:c.13955A>C	XP_006711869.1:p.Asp4652Ala
XM_006711807.2:c.13931A>C	XP_006711870.1:p.Asp4644Ala
XM_006711807.3:c.13931A>C	XP_006711870.1:p.Asp4644Ala
XM_006711808.2:c.13754A>C	XP_006711871.1:p.Asp4585Ala
XM_006711808.3:c.13754A>C	XP_006711871.1:p.Asp4585Ala
XM_006711810.2:c.13898A>C	XP_006711873.1:p.Asp4633Ala
XM_006711810.3:c.13898A>C	XP_006711873.1:p.Asp4633Ala
XM_017002028.1:c.13970A>C	XP_016857517.1:p.Asp4657Ala