Canonical Allele Identifier: CA085556

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798165A>C , CM000663.2:g.237798165A>C	GRCh38
NC_000001.10:g.237961465A>C , CM000663.1:g.237961465A>C	GRCh37
NC_000001.9:g.236028088A>C	NCBI36
NG_008799.2:g.760764A>C
NG_008799.3:g.760982A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14085A>C MANE Select	NP_001026.2:p.Ser4695=
ENST00000366574.7:c.14085A>C MANE Select	ENSP00000355533.2:p.Ser4695=
NM_001035.2:c.14085A>C	NP_001026.2:p.Ser4695=
ENST00000360064.7:c.14034A>C	ENSP00000353174.7:p.Ser4678=
ENST00000366574.6:c.14085A>C	ENSP00000355533.2:p.Ser4695=
ENST00000608590.5:n.596A>C
ENST00000609119.2:c.*5177A>C	ENSP00000499659.2:n.*5177A>C
ENST00000659194.2:c.6256A>C
ENST00000659194.3:c.14067A>C	ENSP00000499653.3:p.Ser4689=
ENST00000660292.2:c.14106A>C	ENSP00000499787.2:p.Ser4702=
XM_006711802.2:c.14139A>C	XP_006711865.1:p.Ser4713=
XM_006711802.3:c.14139A>C	XP_006711865.1:p.Ser4713=
XM_006711803.2:c.14136A>C	XP_006711866.1:p.Ser4712=
XM_006711803.3:c.14136A>C	XP_006711866.1:p.Ser4712=
XM_006711804.2:c.14115A>C	XP_006711867.1:p.Ser4705=
XM_006711804.3:c.14115A>C	XP_006711867.1:p.Ser4705=
XM_006711805.2:c.14109A>C	XP_006711868.1:p.Ser4703=
XM_006711805.3:c.14109A>C	XP_006711868.1:p.Ser4703=
XM_006711806.2:c.14103A>C	XP_006711869.1:p.Ser4701=
XM_006711806.3:c.14103A>C	XP_006711869.1:p.Ser4701=
XM_006711807.2:c.14079A>C	XP_006711870.1:p.Ser4693=
XM_006711807.3:c.14079A>C	XP_006711870.1:p.Ser4693=
XM_006711808.2:c.13902A>C	XP_006711871.1:p.Ser4634=
XM_006711808.3:c.13902A>C	XP_006711871.1:p.Ser4634=
XM_006711810.2:c.14046A>C	XP_006711873.1:p.Ser4682=
XM_006711810.3:c.14046A>C	XP_006711873.1:p.Ser4682=
XM_017002028.1:c.14118A>C	XP_016857517.1:p.Ser4706=