Canonical Allele Identifier: CA008458

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832627T>A , CM000663.2:g.237832627T>A	GRCh38
NC_000001.10:g.237995927T>A , CM000663.1:g.237995927T>A	GRCh37
NC_000001.9:g.236062550T>A	NCBI36
NG_008799.2:g.795226T>A
NG_008799.3:g.795444T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5976T>A	ENSP00000499659.2:n.*5976T>A
ENST00000659194.3:c.14866T>A	ENSP00000499653.3:p.Tyr4956Asn
ENST00000660292.2:c.14905T>A	ENSP00000499787.2:p.Tyr4969Asn
ENST00000659194.2:c.7055T>A
ENST00000366574.7:c.14884T>A MANE Select	ENSP00000355533.2:p.Tyr4962Asn
ENST00000360064.7:c.14833T>A	ENSP00000353174.7:p.Tyr4945Asn
ENST00000366574.6:c.14884T>A	ENSP00000355533.2:p.Tyr4962Asn
ENST00000462585.1:n.727T>A
ENST00000608590.5:n.1294T>A
NM_001035.2:c.14884T>A	NP_001026.2:p.Tyr4962Asn
XM_006711802.2:c.14938T>A	XP_006711865.1:p.Tyr4980Asn
XM_006711803.2:c.14935T>A	XP_006711866.1:p.Tyr4979Asn
XM_006711804.2:c.14914T>A	XP_006711867.1:p.Tyr4972Asn
XM_006711805.2:c.14908T>A	XP_006711868.1:p.Tyr4970Asn
XM_006711806.2:c.14902T>A	XP_006711869.1:p.Tyr4968Asn
XM_006711807.2:c.14878T>A	XP_006711870.1:p.Tyr4960Asn
XM_006711808.2:c.14701T>A	XP_006711871.1:p.Tyr4901Asn
XM_006711810.2:c.14845T>A	XP_006711873.1:p.Tyr4949Asn
XM_006711802.3:c.14938T>A	XP_006711865.1:p.Tyr4980Asn
XM_006711803.3:c.14935T>A	XP_006711866.1:p.Tyr4979Asn
XM_006711804.3:c.14914T>A	XP_006711867.1:p.Tyr4972Asn
XM_006711805.3:c.14908T>A	XP_006711868.1:p.Tyr4970Asn
XM_006711806.3:c.14902T>A	XP_006711869.1:p.Tyr4968Asn
XM_006711807.3:c.14878T>A	XP_006711870.1:p.Tyr4960Asn
XM_006711808.3:c.14701T>A	XP_006711871.1:p.Tyr4901Asn
XM_006711810.3:c.14845T>A	XP_006711873.1:p.Tyr4949Asn
XM_017002028.1:c.14917T>A	XP_016857517.1:p.Tyr4973Asn
NM_001035.3:c.14884T>A MANE Select	NP_001026.2:p.Tyr4962Asn