Canonical Allele Identifier: CA529567517

Gene: RYR2

Linked Data

• dbSNP Id: rs911565660
• gnomAD v2: 1-237971828-C-G
• gnomAD v3: 1-237808528-C-G
• gnomAD v4: 1-237808528-C-G
• MyVariant Identifiers: chr1:g.237971828C>G (hg19) ; chr1:g.237808528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808528C>G , CM000663.2:g.237808528C>G	GRCh38
NC_000001.10:g.237971828C>G , CM000663.1:g.237971828C>G	GRCh37
NC_000001.9:g.236038451C>G	NCBI36
NG_008799.2:g.771127C>G
NG_008799.3:g.771345C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-373C>G	ENSP00000499659.2:n.*5391-373C>G
ENST00000659194.3:c.14281-373C>G	ENSP00000499653.3:n.14281-373C>G
ENST00000660292.2:c.14320-373C>G	ENSP00000499787.2:n.14320-373C>G
ENST00000659194.2:c.6470-373C>G
ENST00000366574.7:c.14299-373C>G MANE Select	ENSP00000355533.2:n.14299-373C>G
ENST00000360064.7:c.14248-373C>G	ENSP00000353174.7:n.14248-373C>G
ENST00000366574.6:c.14299-373C>G	ENSP00000355533.2:n.14299-373C>G
ENST00000608590.5:n.810-373C>G
NM_001035.2:c.14299-373C>G	NP_001026.2:n.14299-373C>G
XM_006711802.2:c.14353-373C>G	XP_006711865.1:n.14353-373C>G
XM_006711803.2:c.14350-373C>G	XP_006711866.1:n.14350-373C>G
XM_006711804.2:c.14329-373C>G	XP_006711867.1:n.14329-373C>G
XM_006711805.2:c.14323-373C>G	XP_006711868.1:n.14323-373C>G
XM_006711806.2:c.14317-373C>G	XP_006711869.1:n.14317-373C>G
XM_006711807.2:c.14293-373C>G	XP_006711870.1:n.14293-373C>G
XM_006711808.2:c.14116-373C>G	XP_006711871.1:n.14116-373C>G
XM_006711810.2:c.14260-373C>G	XP_006711873.1:n.14260-373C>G
XM_006711802.3:c.14353-373C>G	XP_006711865.1:n.14353-373C>G
XM_006711803.3:c.14350-373C>G	XP_006711866.1:n.14350-373C>G
XM_006711804.3:c.14329-373C>G	XP_006711867.1:n.14329-373C>G
XM_006711805.3:c.14323-373C>G	XP_006711868.1:n.14323-373C>G
XM_006711806.3:c.14317-373C>G	XP_006711869.1:n.14317-373C>G
XM_006711807.3:c.14293-373C>G	XP_006711870.1:n.14293-373C>G
XM_006711808.3:c.14116-373C>G	XP_006711871.1:n.14116-373C>G
XM_006711810.3:c.14260-373C>G	XP_006711873.1:n.14260-373C>G
XM_017002028.1:c.14332-373C>G	XP_016857517.1:n.14332-373C>G
NM_001035.3:c.14299-373C>G MANE Select	NP_001026.2:n.14299-373C>G