Canonical Allele Identifier: CA424032204

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1546398
• ClinVar RCV Id: RCV002554379 ; RCV004011210
• dbSNP Id: rs2149353878
• gnomAD v4: 1-237784159-T-C
• MyVariant Identifiers: chr1:g.237947459T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784159T>C , CM000663.2:g.237784159T>C	GRCh38
NC_000001.10:g.237947459T>C , CM000663.1:g.237947459T>C	GRCh37
NC_000001.9:g.236014082T>C	NCBI36
NG_008799.2:g.746758T>C
NG_008799.3:g.746976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3539T>C	ENSP00000499659.2:n.*3539T>C
ENST00000659194.3:c.12435T>C	ENSP00000499653.3:p.Tyr4145=
ENST00000660292.2:c.12468T>C	ENSP00000499787.2:p.Tyr4156=
ENST00000659194.2:c.4624T>C
ENST00000366574.7:c.12447T>C MANE Select	ENSP00000355533.2:p.Tyr4149=
ENST00000659194.1:c.4624T>C
ENST00000660292.1:c.2500T>C
ENST00000360064.7:c.12399T>C	ENSP00000353174.7:p.Tyr4133=
ENST00000366574.6:c.12447T>C	ENSP00000355533.2:p.Tyr4149=
ENST00000609119.1:n.3642T>C
NM_001035.2:c.12447T>C	NP_001026.2:p.Tyr4149=
XM_006711802.2:c.12501T>C	XP_006711865.1:p.Tyr4167=
XM_006711803.2:c.12498T>C	XP_006711866.1:p.Tyr4166=
XM_006711804.2:c.12477T>C	XP_006711867.1:p.Tyr4159=
XM_006711805.2:c.12471T>C	XP_006711868.1:p.Tyr4157=
XM_006711806.2:c.12465T>C	XP_006711869.1:p.Tyr4155=
XM_006711807.2:c.12441T>C	XP_006711870.1:p.Tyr4147=
XM_006711808.2:c.12264T>C	XP_006711871.1:p.Tyr4088=
XM_006711810.2:c.12408T>C	XP_006711873.1:p.Tyr4136=
XM_006711802.3:c.12501T>C	XP_006711865.1:p.Tyr4167=
XM_006711803.3:c.12498T>C	XP_006711866.1:p.Tyr4166=
XM_006711804.3:c.12477T>C	XP_006711867.1:p.Tyr4159=
XM_006711805.3:c.12471T>C	XP_006711868.1:p.Tyr4157=
XM_006711806.3:c.12465T>C	XP_006711869.1:p.Tyr4155=
XM_006711807.3:c.12441T>C	XP_006711870.1:p.Tyr4147=
XM_006711808.3:c.12264T>C	XP_006711871.1:p.Tyr4088=
XM_006711810.3:c.12408T>C	XP_006711873.1:p.Tyr4136=
XM_017002028.1:c.12480T>C	XP_016857517.1:p.Tyr4160=
NM_001035.3:c.12447T>C MANE Select	NP_001026.2:p.Tyr4149=