Canonical Allele Identifier: CA345413636

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947577T>A (hg19) ; chr1:g.237784277T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784277T>A , CM000663.2:g.237784277T>A	GRCh38
NC_000001.10:g.237947577T>A , CM000663.1:g.237947577T>A	GRCh37
NC_000001.9:g.236014200T>A	NCBI36
NG_008799.2:g.746876T>A
NG_008799.3:g.747094T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3657T>A	ENSP00000499659.2:n.*3657T>A
ENST00000659194.3:c.12553T>A	ENSP00000499653.3:p.Phe4185Ile
ENST00000660292.2:c.12586T>A	ENSP00000499787.2:p.Phe4196Ile
ENST00000659194.2:c.4742T>A
ENST00000366574.7:c.12565T>A MANE Select	ENSP00000355533.2:p.Phe4189Ile
ENST00000659194.1:c.4742T>A
ENST00000660292.1:c.2618T>A
ENST00000360064.7:c.12517T>A	ENSP00000353174.7:p.Phe4173Ile
ENST00000366574.6:c.12565T>A	ENSP00000355533.2:p.Phe4189Ile
ENST00000609119.1:n.3760T>A
NM_001035.2:c.12565T>A	NP_001026.2:p.Phe4189Ile
XM_006711802.2:c.12619T>A	XP_006711865.1:p.Phe4207Ile
XM_006711803.2:c.12616T>A	XP_006711866.1:p.Phe4206Ile
XM_006711804.2:c.12595T>A	XP_006711867.1:p.Phe4199Ile
XM_006711805.2:c.12589T>A	XP_006711868.1:p.Phe4197Ile
XM_006711806.2:c.12583T>A	XP_006711869.1:p.Phe4195Ile
XM_006711807.2:c.12559T>A	XP_006711870.1:p.Phe4187Ile
XM_006711808.2:c.12382T>A	XP_006711871.1:p.Phe4128Ile
XM_006711810.2:c.12526T>A	XP_006711873.1:p.Phe4176Ile
XM_006711802.3:c.12619T>A	XP_006711865.1:p.Phe4207Ile
XM_006711803.3:c.12616T>A	XP_006711866.1:p.Phe4206Ile
XM_006711804.3:c.12595T>A	XP_006711867.1:p.Phe4199Ile
XM_006711805.3:c.12589T>A	XP_006711868.1:p.Phe4197Ile
XM_006711806.3:c.12583T>A	XP_006711869.1:p.Phe4195Ile
XM_006711807.3:c.12559T>A	XP_006711870.1:p.Phe4187Ile
XM_006711808.3:c.12382T>A	XP_006711871.1:p.Phe4128Ile
XM_006711810.3:c.12526T>A	XP_006711873.1:p.Phe4176Ile
XM_017002028.1:c.12598T>A	XP_016857517.1:p.Phe4200Ile
NM_001035.3:c.12565T>A MANE Select	NP_001026.2:p.Phe4189Ile