Canonical Allele Identifier: CA085005

Gene: RYR2

Linked Data

• dbSNP Id: rs760091529
• ExAC: 1:237935285 T / G
• gnomAD v2: 1-237935285-T-G
• gnomAD v4: 1-237771985-T-G
• MyVariant Identifiers: chr1:g.237935285T>G (hg19) ; chr1:g.237771985T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237771985T>G , CM000663.2:g.237771985T>G	GRCh38
NC_000001.10:g.237935285T>G , CM000663.1:g.237935285T>G	GRCh37
NC_000001.9:g.236001908T>G	NCBI36
NG_008799.2:g.734584T>G
NG_008799.3:g.734802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2650-27T>G	ENSP00000499659.2:n.*2650-27T>G
ENST00000659194.3:c.11546-27T>G	ENSP00000499653.3:n.11546-27T>G
ENST00000660292.2:c.11579-27T>G	ENSP00000499787.2:n.11579-27T>G
ENST00000659194.2:c.3735-27T>G
ENST00000366574.7:c.11558-27T>G MANE Select	ENSP00000355533.2:n.11558-27T>G
ENST00000659194.1:c.3735-27T>G
ENST00000660292.1:c.1611-27T>G
ENST00000360064.7:c.11510-27T>G	ENSP00000353174.7:n.11510-27T>G
ENST00000366574.6:c.11558-27T>G	ENSP00000355533.2:n.11558-27T>G
ENST00000609119.1:n.2753-27T>G
NM_001035.2:c.11558-27T>G	NP_001026.2:n.11558-27T>G
XM_006711802.2:c.11612-27T>G	XP_006711865.1:n.11612-27T>G
XM_006711803.2:c.11609-27T>G	XP_006711866.1:n.11609-27T>G
XM_006711804.2:c.11588-27T>G	XP_006711867.1:n.11588-27T>G
XM_006711805.2:c.11582-27T>G	XP_006711868.1:n.11582-27T>G
XM_006711806.2:c.11576-27T>G	XP_006711869.1:n.11576-27T>G
XM_006711807.2:c.11552-27T>G	XP_006711870.1:n.11552-27T>G
XM_006711808.2:c.11375-27T>G	XP_006711871.1:n.11375-27T>G
XM_006711810.2:c.11519-27T>G	XP_006711873.1:n.11519-27T>G
XM_006711802.3:c.11612-27T>G	XP_006711865.1:n.11612-27T>G
XM_006711803.3:c.11609-27T>G	XP_006711866.1:n.11609-27T>G
XM_006711804.3:c.11588-27T>G	XP_006711867.1:n.11588-27T>G
XM_006711805.3:c.11582-27T>G	XP_006711868.1:n.11582-27T>G
XM_006711806.3:c.11576-27T>G	XP_006711869.1:n.11576-27T>G
XM_006711807.3:c.11552-27T>G	XP_006711870.1:n.11552-27T>G
XM_006711808.3:c.11375-27T>G	XP_006711871.1:n.11375-27T>G
XM_006711810.3:c.11519-27T>G	XP_006711873.1:n.11519-27T>G
XM_017002028.1:c.11591-27T>G	XP_016857517.1:n.11591-27T>G
NM_001035.3:c.11558-27T>G MANE Select	NP_001026.2:n.11558-27T>G