Canonical Allele Identifier: CA345424494

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972312A>G (hg19) ; chr1:g.237809012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809012A>G , CM000663.2:g.237809012A>G	GRCh38
NC_000001.10:g.237972312A>G , CM000663.1:g.237972312A>G	GRCh37
NC_000001.9:g.236038935A>G	NCBI36
NG_008799.2:g.771611A>G
NG_008799.3:g.771829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5502A>G	ENSP00000499659.2:n.*5502A>G
ENST00000659194.3:c.14392A>G	ENSP00000499653.3:p.Met4798Val
ENST00000660292.2:c.14431A>G	ENSP00000499787.2:p.Met4811Val
ENST00000659194.2:c.6581A>G
ENST00000366574.7:c.14410A>G MANE Select	ENSP00000355533.2:p.Met4804Val
ENST00000360064.7:c.14359A>G	ENSP00000353174.7:p.Met4787Val
ENST00000366574.6:c.14410A>G	ENSP00000355533.2:p.Met4804Val
ENST00000608590.5:n.921A>G
NM_001035.2:c.14410A>G	NP_001026.2:p.Met4804Val
XM_006711802.2:c.14464A>G	XP_006711865.1:p.Met4822Val
XM_006711803.2:c.14461A>G	XP_006711866.1:p.Met4821Val
XM_006711804.2:c.14440A>G	XP_006711867.1:p.Met4814Val
XM_006711805.2:c.14434A>G	XP_006711868.1:p.Met4812Val
XM_006711806.2:c.14428A>G	XP_006711869.1:p.Met4810Val
XM_006711807.2:c.14404A>G	XP_006711870.1:p.Met4802Val
XM_006711808.2:c.14227A>G	XP_006711871.1:p.Met4743Val
XM_006711810.2:c.14371A>G	XP_006711873.1:p.Met4791Val
XM_006711802.3:c.14464A>G	XP_006711865.1:p.Met4822Val
XM_006711803.3:c.14461A>G	XP_006711866.1:p.Met4821Val
XM_006711804.3:c.14440A>G	XP_006711867.1:p.Met4814Val
XM_006711805.3:c.14434A>G	XP_006711868.1:p.Met4812Val
XM_006711806.3:c.14428A>G	XP_006711869.1:p.Met4810Val
XM_006711807.3:c.14404A>G	XP_006711870.1:p.Met4802Val
XM_006711808.3:c.14227A>G	XP_006711871.1:p.Met4743Val
XM_006711810.3:c.14371A>G	XP_006711873.1:p.Met4791Val
XM_017002028.1:c.14443A>G	XP_016857517.1:p.Met4815Val
NM_001035.3:c.14410A>G MANE Select	NP_001026.2:p.Met4804Val