Canonical Allele Identifier: CA007471

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784037A>G , CM000663.2:g.237784037A>G	GRCh38
NC_000001.10:g.237947337A>G , CM000663.1:g.237947337A>G	GRCh37
NC_000001.9:g.236013960A>G	NCBI36
NG_008799.2:g.746636A>G
NG_008799.3:g.746854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3417A>G	ENSP00000499659.2:n.*3417A>G
ENST00000659194.3:c.12313A>G	ENSP00000499653.3:p.Met4105Val
ENST00000660292.2:c.12346A>G	ENSP00000499787.2:p.Met4116Val
ENST00000659194.2:c.4502A>G
ENST00000366574.7:c.12325A>G MANE Select	ENSP00000355533.2:p.Met4109Val
ENST00000659194.1:c.4502A>G
ENST00000660292.1:c.2378A>G
ENST00000360064.7:c.12277A>G	ENSP00000353174.7:p.Met4093Val
ENST00000366574.6:c.12325A>G	ENSP00000355533.2:p.Met4109Val
ENST00000609119.1:n.3520A>G
NM_001035.2:c.12325A>G	NP_001026.2:p.Met4109Val
XM_006711802.2:c.12379A>G	XP_006711865.1:p.Met4127Val
XM_006711803.2:c.12376A>G	XP_006711866.1:p.Met4126Val
XM_006711804.2:c.12355A>G	XP_006711867.1:p.Met4119Val
XM_006711805.2:c.12349A>G	XP_006711868.1:p.Met4117Val
XM_006711806.2:c.12343A>G	XP_006711869.1:p.Met4115Val
XM_006711807.2:c.12319A>G	XP_006711870.1:p.Met4107Val
XM_006711808.2:c.12142A>G	XP_006711871.1:p.Met4048Val
XM_006711810.2:c.12286A>G	XP_006711873.1:p.Met4096Val
XM_006711802.3:c.12379A>G	XP_006711865.1:p.Met4127Val
XM_006711803.3:c.12376A>G	XP_006711866.1:p.Met4126Val
XM_006711804.3:c.12355A>G	XP_006711867.1:p.Met4119Val
XM_006711805.3:c.12349A>G	XP_006711868.1:p.Met4117Val
XM_006711806.3:c.12343A>G	XP_006711869.1:p.Met4115Val
XM_006711807.3:c.12319A>G	XP_006711870.1:p.Met4107Val
XM_006711808.3:c.12142A>G	XP_006711871.1:p.Met4048Val
XM_006711810.3:c.12286A>G	XP_006711873.1:p.Met4096Val
XM_017002028.1:c.12358A>G	XP_016857517.1:p.Met4120Val
NM_001035.3:c.12325A>G MANE Select	NP_001026.2:p.Met4109Val