Canonical Allele Identifier: CA345413291

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947460T>A (hg19) ; chr1:g.237784160T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784160T>A , CM000663.2:g.237784160T>A	GRCh38
NC_000001.10:g.237947460T>A , CM000663.1:g.237947460T>A	GRCh37
NC_000001.9:g.236014083T>A	NCBI36
NG_008799.2:g.746759T>A
NG_008799.3:g.746977T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3540T>A	ENSP00000499659.2:n.*3540T>A
ENST00000659194.3:c.12436T>A	ENSP00000499653.3:p.Phe4146Ile
ENST00000660292.2:c.12469T>A	ENSP00000499787.2:p.Phe4157Ile
ENST00000659194.2:c.4625T>A
ENST00000366574.7:c.12448T>A MANE Select	ENSP00000355533.2:p.Phe4150Ile
ENST00000659194.1:c.4625T>A
ENST00000660292.1:c.2501T>A
ENST00000360064.7:c.12400T>A	ENSP00000353174.7:p.Phe4134Ile
ENST00000366574.6:c.12448T>A	ENSP00000355533.2:p.Phe4150Ile
ENST00000609119.1:n.3643T>A
NM_001035.2:c.12448T>A	NP_001026.2:p.Phe4150Ile
XM_006711802.2:c.12502T>A	XP_006711865.1:p.Phe4168Ile
XM_006711803.2:c.12499T>A	XP_006711866.1:p.Phe4167Ile
XM_006711804.2:c.12478T>A	XP_006711867.1:p.Phe4160Ile
XM_006711805.2:c.12472T>A	XP_006711868.1:p.Phe4158Ile
XM_006711806.2:c.12466T>A	XP_006711869.1:p.Phe4156Ile
XM_006711807.2:c.12442T>A	XP_006711870.1:p.Phe4148Ile
XM_006711808.2:c.12265T>A	XP_006711871.1:p.Phe4089Ile
XM_006711810.2:c.12409T>A	XP_006711873.1:p.Phe4137Ile
XM_006711802.3:c.12502T>A	XP_006711865.1:p.Phe4168Ile
XM_006711803.3:c.12499T>A	XP_006711866.1:p.Phe4167Ile
XM_006711804.3:c.12478T>A	XP_006711867.1:p.Phe4160Ile
XM_006711805.3:c.12472T>A	XP_006711868.1:p.Phe4158Ile
XM_006711806.3:c.12466T>A	XP_006711869.1:p.Phe4156Ile
XM_006711807.3:c.12442T>A	XP_006711870.1:p.Phe4148Ile
XM_006711808.3:c.12265T>A	XP_006711871.1:p.Phe4089Ile
XM_006711810.3:c.12409T>A	XP_006711873.1:p.Phe4137Ile
XM_017002028.1:c.12481T>A	XP_016857517.1:p.Phe4161Ile
NM_001035.3:c.12448T>A MANE Select	NP_001026.2:p.Phe4150Ile