Canonical Allele Identifier: CA087947

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2774366
• ClinVar RCV Id: RCV003533444 ; RCV003638971 ; RCV004011553
• dbSNP Id: rs770532623
• ExAC: 1:237870367 T / C
• gnomAD v2: 1-237870367-T-C
• gnomAD v4: 1-237707067-T-C
• MyVariant Identifiers: chr1:g.237870367T>C (hg19) ; chr1:g.237707067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707067T>C , CM000663.2:g.237707067T>C	GRCh38
NC_000001.10:g.237870367T>C , CM000663.1:g.237870367T>C	GRCh37
NC_000001.9:g.235936990T>C	NCBI36
NG_008799.2:g.669666T>C
NG_008799.3:g.669884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*734T>C	ENSP00000499659.2:n.*734T>C
ENST00000659194.3:c.9699T>C	ENSP00000499653.3:p.His3233=
ENST00000660292.2:c.9699T>C	ENSP00000499787.2:p.His3233=
ENST00000659194.2:c.1888T>C
ENST00000366574.7:c.9699T>C MANE Select	ENSP00000355533.2:p.His3233=
ENST00000659194.1:c.1888T>C
ENST00000360064.7:c.9651T>C	ENSP00000353174.7:p.His3217=
ENST00000366574.6:c.9699T>C	ENSP00000355533.2:p.His3233=
ENST00000609119.1:n.837T>C
NM_001035.2:c.9699T>C	NP_001026.2:p.His3233=
XM_006711802.2:c.9729T>C	XP_006711865.1:p.His3243=
XM_006711803.2:c.9726T>C	XP_006711866.1:p.His3242=
XM_006711804.2:c.9729T>C	XP_006711867.1:p.His3243=
XM_006711805.2:c.9699T>C	XP_006711868.1:p.His3233=
XM_006711806.2:c.9729T>C	XP_006711869.1:p.His3243=
XM_006711807.2:c.9729T>C	XP_006711870.1:p.His3243=
XM_006711808.2:c.9492T>C	XP_006711871.1:p.His3164=
XM_006711810.2:c.9696T>C	XP_006711873.1:p.His3232=
XM_006711802.3:c.9729T>C	XP_006711865.1:p.His3243=
XM_006711803.3:c.9726T>C	XP_006711866.1:p.His3242=
XM_006711804.3:c.9729T>C	XP_006711867.1:p.His3243=
XM_006711805.3:c.9699T>C	XP_006711868.1:p.His3233=
XM_006711806.3:c.9729T>C	XP_006711869.1:p.His3243=
XM_006711807.3:c.9729T>C	XP_006711870.1:p.His3243=
XM_006711808.3:c.9492T>C	XP_006711871.1:p.His3164=
XM_006711810.3:c.9696T>C	XP_006711873.1:p.His3232=
XM_017002028.1:c.9708T>C	XP_016857517.1:p.His3236=
NM_001035.3:c.9699T>C MANE Select	NP_001026.2:p.His3233=