Canonical Allele Identifier: CA345423159

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806236A>G , CM000663.2:g.237806236A>G	GRCh38
NC_000001.10:g.237969536A>G , CM000663.1:g.237969536A>G	GRCh37
NC_000001.9:g.236036159A>G	NCBI36
NG_008799.2:g.768835A>G
NG_008799.3:g.769053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5343A>G	ENSP00000499659.2:n.*5343A>G
ENST00000659194.3:c.14233A>G	ENSP00000499653.3:p.Lys4745Glu
ENST00000660292.2:c.14272A>G	ENSP00000499787.2:p.Lys4758Glu
ENST00000659194.2:c.6422A>G
ENST00000366574.7:c.14251A>G MANE Select	ENSP00000355533.2:p.Lys4751Glu
ENST00000360064.7:c.14200A>G	ENSP00000353174.7:p.Lys4734Glu
ENST00000366574.6:c.14251A>G	ENSP00000355533.2:p.Lys4751Glu
ENST00000608590.5:n.762A>G
NM_001035.2:c.14251A>G	NP_001026.2:p.Lys4751Glu
XM_006711802.2:c.14305A>G	XP_006711865.1:p.Lys4769Glu
XM_006711803.2:c.14302A>G	XP_006711866.1:p.Lys4768Glu
XM_006711804.2:c.14281A>G	XP_006711867.1:p.Lys4761Glu
XM_006711805.2:c.14275A>G	XP_006711868.1:p.Lys4759Glu
XM_006711806.2:c.14269A>G	XP_006711869.1:p.Lys4757Glu
XM_006711807.2:c.14245A>G	XP_006711870.1:p.Lys4749Glu
XM_006711808.2:c.14068A>G	XP_006711871.1:p.Lys4690Glu
XM_006711810.2:c.14212A>G	XP_006711873.1:p.Lys4738Glu
XM_006711802.3:c.14305A>G	XP_006711865.1:p.Lys4769Glu
XM_006711803.3:c.14302A>G	XP_006711866.1:p.Lys4768Glu
XM_006711804.3:c.14281A>G	XP_006711867.1:p.Lys4761Glu
XM_006711805.3:c.14275A>G	XP_006711868.1:p.Lys4759Glu
XM_006711806.3:c.14269A>G	XP_006711869.1:p.Lys4757Glu
XM_006711807.3:c.14245A>G	XP_006711870.1:p.Lys4749Glu
XM_006711808.3:c.14068A>G	XP_006711871.1:p.Lys4690Glu
XM_006711810.3:c.14212A>G	XP_006711873.1:p.Lys4738Glu
XM_017002028.1:c.14284A>G	XP_016857517.1:p.Lys4762Glu
NM_001035.3:c.14251A>G MANE Select	NP_001026.2:p.Lys4751Glu