Canonical Allele Identifier: CA345413642

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947579T>A (hg19) ; chr1:g.237784279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784279T>A , CM000663.2:g.237784279T>A	GRCh38
NC_000001.10:g.237947579T>A , CM000663.1:g.237947579T>A	GRCh37
NC_000001.9:g.236014202T>A	NCBI36
NG_008799.2:g.746878T>A
NG_008799.3:g.747096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3659T>A	ENSP00000499659.2:n.*3659T>A
ENST00000659194.3:c.12555T>A	ENSP00000499653.3:p.Phe4185Leu
ENST00000660292.2:c.12588T>A	ENSP00000499787.2:p.Phe4196Leu
ENST00000659194.2:c.4744T>A
ENST00000366574.7:c.12567T>A MANE Select	ENSP00000355533.2:p.Phe4189Leu
ENST00000659194.1:c.4744T>A
ENST00000660292.1:c.2620T>A
ENST00000360064.7:c.12519T>A	ENSP00000353174.7:p.Phe4173Leu
ENST00000366574.6:c.12567T>A	ENSP00000355533.2:p.Phe4189Leu
ENST00000609119.1:n.3762T>A
NM_001035.2:c.12567T>A	NP_001026.2:p.Phe4189Leu
XM_006711802.2:c.12621T>A	XP_006711865.1:p.Phe4207Leu
XM_006711803.2:c.12618T>A	XP_006711866.1:p.Phe4206Leu
XM_006711804.2:c.12597T>A	XP_006711867.1:p.Phe4199Leu
XM_006711805.2:c.12591T>A	XP_006711868.1:p.Phe4197Leu
XM_006711806.2:c.12585T>A	XP_006711869.1:p.Phe4195Leu
XM_006711807.2:c.12561T>A	XP_006711870.1:p.Phe4187Leu
XM_006711808.2:c.12384T>A	XP_006711871.1:p.Phe4128Leu
XM_006711810.2:c.12528T>A	XP_006711873.1:p.Phe4176Leu
XM_006711802.3:c.12621T>A	XP_006711865.1:p.Phe4207Leu
XM_006711803.3:c.12618T>A	XP_006711866.1:p.Phe4206Leu
XM_006711804.3:c.12597T>A	XP_006711867.1:p.Phe4199Leu
XM_006711805.3:c.12591T>A	XP_006711868.1:p.Phe4197Leu
XM_006711806.3:c.12585T>A	XP_006711869.1:p.Phe4195Leu
XM_006711807.3:c.12561T>A	XP_006711870.1:p.Phe4187Leu
XM_006711808.3:c.12384T>A	XP_006711871.1:p.Phe4128Leu
XM_006711810.3:c.12528T>A	XP_006711873.1:p.Phe4176Leu
XM_017002028.1:c.12600T>A	XP_016857517.1:p.Phe4200Leu
NM_001035.3:c.12567T>A MANE Select	NP_001026.2:p.Phe4189Leu