Canonical Allele Identifier: CA345414530

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237717288C>T , CM000663.2:g.237717288C>T	GRCh38
NC_000001.10:g.237880588C>T , CM000663.1:g.237880588C>T	GRCh37
NC_000001.9:g.235947211C>T	NCBI36
NG_008799.2:g.679887C>T
NG_008799.3:g.680105C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10414C>T MANE Select	NP_001026.2:p.Arg3472Trp
ENST00000366574.7:c.10414C>T MANE Select	ENSP00000355533.2:p.Arg3472Trp
NM_001035.2:c.10414C>T	NP_001026.2:p.Arg3472Trp
ENST00000360064.7:c.10366C>T	ENSP00000353174.7:p.Arg3456Trp
ENST00000366574.6:c.10414C>T	ENSP00000355533.2:p.Arg3472Trp
ENST00000609119.1:n.1552C>T
ENST00000609119.2:c.*1449C>T	ENSP00000499659.2:n.*1449C>T
ENST00000659194.1:c.2603C>T
ENST00000659194.2:c.2603C>T
ENST00000659194.3:c.10414C>T	ENSP00000499653.3:p.Arg3472Trp
ENST00000660292.1:c.446C>T
ENST00000660292.2:c.10414C>T	ENSP00000499787.2:p.Arg3472Trp
ENST00000661330.1:c.221C>T
XM_006711802.2:c.10444C>T	XP_006711865.1:p.Arg3482Trp
XM_006711802.3:c.10444C>T	XP_006711865.1:p.Arg3482Trp
XM_006711803.2:c.10441C>T	XP_006711866.1:p.Arg3481Trp
XM_006711803.3:c.10441C>T	XP_006711866.1:p.Arg3481Trp
XM_006711804.2:c.10444C>T	XP_006711867.1:p.Arg3482Trp
XM_006711804.3:c.10444C>T	XP_006711867.1:p.Arg3482Trp
XM_006711805.2:c.10414C>T	XP_006711868.1:p.Arg3472Trp
XM_006711805.3:c.10414C>T	XP_006711868.1:p.Arg3472Trp
XM_006711806.2:c.10444C>T	XP_006711869.1:p.Arg3482Trp
XM_006711806.3:c.10444C>T	XP_006711869.1:p.Arg3482Trp
XM_006711807.2:c.10444C>T	XP_006711870.1:p.Arg3482Trp
XM_006711807.3:c.10444C>T	XP_006711870.1:p.Arg3482Trp
XM_006711808.2:c.10207C>T	XP_006711871.1:p.Arg3403Trp
XM_006711808.3:c.10207C>T	XP_006711871.1:p.Arg3403Trp
XM_006711810.2:c.10411C>T	XP_006711873.1:p.Arg3471Trp
XM_006711810.3:c.10411C>T	XP_006711873.1:p.Arg3471Trp
XM_017002028.1:c.10423C>T	XP_016857517.1:p.Arg3475Trp