Canonical Allele Identifier: CA345413437

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947494A>T (hg19) ; chr1:g.237784194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784194A>T , CM000663.2:g.237784194A>T	GRCh38
NC_000001.10:g.237947494A>T , CM000663.1:g.237947494A>T	GRCh37
NC_000001.9:g.236014117A>T	NCBI36
NG_008799.2:g.746793A>T
NG_008799.3:g.747011A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3574A>T	ENSP00000499659.2:n.*3574A>T
ENST00000659194.3:c.12470A>T	ENSP00000499653.3:p.Glu4157Val
ENST00000660292.2:c.12503A>T	ENSP00000499787.2:p.Glu4168Val
ENST00000659194.2:c.4659A>T
ENST00000366574.7:c.12482A>T MANE Select	ENSP00000355533.2:p.Glu4161Val
ENST00000659194.1:c.4659A>T
ENST00000660292.1:c.2535A>T
ENST00000360064.7:c.12434A>T	ENSP00000353174.7:p.Glu4145Val
ENST00000366574.6:c.12482A>T	ENSP00000355533.2:p.Glu4161Val
ENST00000609119.1:n.3677A>T
NM_001035.2:c.12482A>T	NP_001026.2:p.Glu4161Val
XM_006711802.2:c.12536A>T	XP_006711865.1:p.Glu4179Val
XM_006711803.2:c.12533A>T	XP_006711866.1:p.Glu4178Val
XM_006711804.2:c.12512A>T	XP_006711867.1:p.Glu4171Val
XM_006711805.2:c.12506A>T	XP_006711868.1:p.Glu4169Val
XM_006711806.2:c.12500A>T	XP_006711869.1:p.Glu4167Val
XM_006711807.2:c.12476A>T	XP_006711870.1:p.Glu4159Val
XM_006711808.2:c.12299A>T	XP_006711871.1:p.Glu4100Val
XM_006711810.2:c.12443A>T	XP_006711873.1:p.Glu4148Val
XM_006711802.3:c.12536A>T	XP_006711865.1:p.Glu4179Val
XM_006711803.3:c.12533A>T	XP_006711866.1:p.Glu4178Val
XM_006711804.3:c.12512A>T	XP_006711867.1:p.Glu4171Val
XM_006711805.3:c.12506A>T	XP_006711868.1:p.Glu4169Val
XM_006711806.3:c.12500A>T	XP_006711869.1:p.Glu4167Val
XM_006711807.3:c.12476A>T	XP_006711870.1:p.Glu4159Val
XM_006711808.3:c.12299A>T	XP_006711871.1:p.Glu4100Val
XM_006711810.3:c.12443A>T	XP_006711873.1:p.Glu4148Val
XM_017002028.1:c.12515A>T	XP_016857517.1:p.Glu4172Val
NM_001035.3:c.12482A>T MANE Select	NP_001026.2:p.Glu4161Val