Canonical Allele Identifier: CA085204

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784339G>A , CM000663.2:g.237784339G>A	GRCh38
NC_000001.10:g.237947639G>A , CM000663.1:g.237947639G>A	GRCh37
NC_000001.9:g.236014262G>A	NCBI36
NG_008799.2:g.746938G>A
NG_008799.3:g.747156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3719G>A	ENSP00000499659.2:n.*3719G>A
ENST00000659194.3:c.12615G>A	ENSP00000499653.3:p.Ser4205=
ENST00000660292.2:c.12648G>A	ENSP00000499787.2:p.Ser4216=
ENST00000659194.2:c.4804G>A
ENST00000366574.7:c.12627G>A MANE Select	ENSP00000355533.2:p.Ser4209=
ENST00000659194.1:c.4804G>A
ENST00000660292.1:c.2680G>A
ENST00000360064.7:c.12579G>A	ENSP00000353174.7:p.Ser4193=
ENST00000366574.6:c.12627G>A	ENSP00000355533.2:p.Ser4209=
ENST00000609119.1:n.3822G>A
NM_001035.2:c.12627G>A	NP_001026.2:p.Ser4209=
XM_006711802.2:c.12681G>A	XP_006711865.1:p.Ser4227=
XM_006711803.2:c.12678G>A	XP_006711866.1:p.Ser4226=
XM_006711804.2:c.12657G>A	XP_006711867.1:p.Ser4219=
XM_006711805.2:c.12651G>A	XP_006711868.1:p.Ser4217=
XM_006711806.2:c.12645G>A	XP_006711869.1:p.Ser4215=
XM_006711807.2:c.12621G>A	XP_006711870.1:p.Ser4207=
XM_006711808.2:c.12444G>A	XP_006711871.1:p.Ser4148=
XM_006711810.2:c.12588G>A	XP_006711873.1:p.Ser4196=
XM_006711802.3:c.12681G>A	XP_006711865.1:p.Ser4227=
XM_006711803.3:c.12678G>A	XP_006711866.1:p.Ser4226=
XM_006711804.3:c.12657G>A	XP_006711867.1:p.Ser4219=
XM_006711805.3:c.12651G>A	XP_006711868.1:p.Ser4217=
XM_006711806.3:c.12645G>A	XP_006711869.1:p.Ser4215=
XM_006711807.3:c.12621G>A	XP_006711870.1:p.Ser4207=
XM_006711808.3:c.12444G>A	XP_006711871.1:p.Ser4148=
XM_006711810.3:c.12588G>A	XP_006711873.1:p.Ser4196=
XM_017002028.1:c.12660G>A	XP_016857517.1:p.Ser4220=
NM_001035.3:c.12627G>A MANE Select	NP_001026.2:p.Ser4209=