Canonical Allele Identifier: CA345413709

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947607G>T (hg19) ; chr1:g.237784307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784307G>T , CM000663.2:g.237784307G>T	GRCh38
NC_000001.10:g.237947607G>T , CM000663.1:g.237947607G>T	GRCh37
NC_000001.9:g.236014230G>T	NCBI36
NG_008799.2:g.746906G>T
NG_008799.3:g.747124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3687G>T	ENSP00000499659.2:n.*3687G>T
ENST00000659194.3:c.12583G>T	ENSP00000499653.3:p.Glu4195Ter
ENST00000660292.2:c.12616G>T	ENSP00000499787.2:p.Glu4206Ter
ENST00000659194.2:c.4772G>T
ENST00000366574.7:c.12595G>T MANE Select	ENSP00000355533.2:p.Glu4199Ter
ENST00000659194.1:c.4772G>T
ENST00000660292.1:c.2648G>T
ENST00000360064.7:c.12547G>T	ENSP00000353174.7:p.Glu4183Ter
ENST00000366574.6:c.12595G>T	ENSP00000355533.2:p.Glu4199Ter
ENST00000609119.1:n.3790G>T
NM_001035.2:c.12595G>T	NP_001026.2:p.Glu4199Ter
XM_006711802.2:c.12649G>T	XP_006711865.1:p.Glu4217Ter
XM_006711803.2:c.12646G>T	XP_006711866.1:p.Glu4216Ter
XM_006711804.2:c.12625G>T	XP_006711867.1:p.Glu4209Ter
XM_006711805.2:c.12619G>T	XP_006711868.1:p.Glu4207Ter
XM_006711806.2:c.12613G>T	XP_006711869.1:p.Glu4205Ter
XM_006711807.2:c.12589G>T	XP_006711870.1:p.Glu4197Ter
XM_006711808.2:c.12412G>T	XP_006711871.1:p.Glu4138Ter
XM_006711810.2:c.12556G>T	XP_006711873.1:p.Glu4186Ter
XM_006711802.3:c.12649G>T	XP_006711865.1:p.Glu4217Ter
XM_006711803.3:c.12646G>T	XP_006711866.1:p.Glu4216Ter
XM_006711804.3:c.12625G>T	XP_006711867.1:p.Glu4209Ter
XM_006711805.3:c.12619G>T	XP_006711868.1:p.Glu4207Ter
XM_006711806.3:c.12613G>T	XP_006711869.1:p.Glu4205Ter
XM_006711807.3:c.12589G>T	XP_006711870.1:p.Glu4197Ter
XM_006711808.3:c.12412G>T	XP_006711871.1:p.Glu4138Ter
XM_006711810.3:c.12556G>T	XP_006711873.1:p.Glu4186Ter
XM_017002028.1:c.12628G>T	XP_016857517.1:p.Glu4210Ter
NM_001035.3:c.12595G>T MANE Select	NP_001026.2:p.Glu4199Ter