Canonical Allele Identifier: CA345413750

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947626A>T (hg19) ; chr1:g.237784326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784326A>T , CM000663.2:g.237784326A>T	GRCh38
NC_000001.10:g.237947626A>T , CM000663.1:g.237947626A>T	GRCh37
NC_000001.9:g.236014249A>T	NCBI36
NG_008799.2:g.746925A>T
NG_008799.3:g.747143A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3706A>T	ENSP00000499659.2:n.*3706A>T
ENST00000659194.3:c.12602A>T	ENSP00000499653.3:p.Gln4201Leu
ENST00000660292.2:c.12635A>T	ENSP00000499787.2:p.Gln4212Leu
ENST00000659194.2:c.4791A>T
ENST00000366574.7:c.12614A>T MANE Select	ENSP00000355533.2:p.Gln4205Leu
ENST00000659194.1:c.4791A>T
ENST00000660292.1:c.2667A>T
ENST00000360064.7:c.12566A>T	ENSP00000353174.7:p.Gln4189Leu
ENST00000366574.6:c.12614A>T	ENSP00000355533.2:p.Gln4205Leu
ENST00000609119.1:n.3809A>T
NM_001035.2:c.12614A>T	NP_001026.2:p.Gln4205Leu
XM_006711802.2:c.12668A>T	XP_006711865.1:p.Gln4223Leu
XM_006711803.2:c.12665A>T	XP_006711866.1:p.Gln4222Leu
XM_006711804.2:c.12644A>T	XP_006711867.1:p.Gln4215Leu
XM_006711805.2:c.12638A>T	XP_006711868.1:p.Gln4213Leu
XM_006711806.2:c.12632A>T	XP_006711869.1:p.Gln4211Leu
XM_006711807.2:c.12608A>T	XP_006711870.1:p.Gln4203Leu
XM_006711808.2:c.12431A>T	XP_006711871.1:p.Gln4144Leu
XM_006711810.2:c.12575A>T	XP_006711873.1:p.Gln4192Leu
XM_006711802.3:c.12668A>T	XP_006711865.1:p.Gln4223Leu
XM_006711803.3:c.12665A>T	XP_006711866.1:p.Gln4222Leu
XM_006711804.3:c.12644A>T	XP_006711867.1:p.Gln4215Leu
XM_006711805.3:c.12638A>T	XP_006711868.1:p.Gln4213Leu
XM_006711806.3:c.12632A>T	XP_006711869.1:p.Gln4211Leu
XM_006711807.3:c.12608A>T	XP_006711870.1:p.Gln4203Leu
XM_006711808.3:c.12431A>T	XP_006711871.1:p.Gln4144Leu
XM_006711810.3:c.12575A>T	XP_006711873.1:p.Gln4192Leu
XM_017002028.1:c.12647A>T	XP_016857517.1:p.Gln4216Leu
NM_001035.3:c.12614A>T MANE Select	NP_001026.2:p.Gln4205Leu