Canonical Allele Identifier: CA345413459

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947502C>G (hg19) ; chr1:g.237784202C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784202C>G , CM000663.2:g.237784202C>G	GRCh38
NC_000001.10:g.237947502C>G , CM000663.1:g.237947502C>G	GRCh37
NC_000001.9:g.236014125C>G	NCBI36
NG_008799.2:g.746801C>G
NG_008799.3:g.747019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3582C>G	ENSP00000499659.2:n.*3582C>G
ENST00000659194.3:c.12478C>G	ENSP00000499653.3:p.Gln4160Glu
ENST00000660292.2:c.12511C>G	ENSP00000499787.2:p.Gln4171Glu
ENST00000659194.2:c.4667C>G
ENST00000366574.7:c.12490C>G MANE Select	ENSP00000355533.2:p.Gln4164Glu
ENST00000659194.1:c.4667C>G
ENST00000660292.1:c.2543C>G
ENST00000360064.7:c.12442C>G	ENSP00000353174.7:p.Gln4148Glu
ENST00000366574.6:c.12490C>G	ENSP00000355533.2:p.Gln4164Glu
ENST00000609119.1:n.3685C>G
NM_001035.2:c.12490C>G	NP_001026.2:p.Gln4164Glu
XM_006711802.2:c.12544C>G	XP_006711865.1:p.Gln4182Glu
XM_006711803.2:c.12541C>G	XP_006711866.1:p.Gln4181Glu
XM_006711804.2:c.12520C>G	XP_006711867.1:p.Gln4174Glu
XM_006711805.2:c.12514C>G	XP_006711868.1:p.Gln4172Glu
XM_006711806.2:c.12508C>G	XP_006711869.1:p.Gln4170Glu
XM_006711807.2:c.12484C>G	XP_006711870.1:p.Gln4162Glu
XM_006711808.2:c.12307C>G	XP_006711871.1:p.Gln4103Glu
XM_006711810.2:c.12451C>G	XP_006711873.1:p.Gln4151Glu
XM_006711802.3:c.12544C>G	XP_006711865.1:p.Gln4182Glu
XM_006711803.3:c.12541C>G	XP_006711866.1:p.Gln4181Glu
XM_006711804.3:c.12520C>G	XP_006711867.1:p.Gln4174Glu
XM_006711805.3:c.12514C>G	XP_006711868.1:p.Gln4172Glu
XM_006711806.3:c.12508C>G	XP_006711869.1:p.Gln4170Glu
XM_006711807.3:c.12484C>G	XP_006711870.1:p.Gln4162Glu
XM_006711808.3:c.12307C>G	XP_006711871.1:p.Gln4103Glu
XM_006711810.3:c.12451C>G	XP_006711873.1:p.Gln4151Glu
XM_017002028.1:c.12523C>G	XP_016857517.1:p.Gln4175Glu
NM_001035.3:c.12490C>G MANE Select	NP_001026.2:p.Gln4164Glu