Canonical Allele Identifier: CA345424283

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972267T>A (hg19) ; chr1:g.237808967T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808967T>A , CM000663.2:g.237808967T>A	GRCh38
NC_000001.10:g.237972267T>A , CM000663.1:g.237972267T>A	GRCh37
NC_000001.9:g.236038890T>A	NCBI36
NG_008799.2:g.771566T>A
NG_008799.3:g.771784T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5457T>A	ENSP00000499659.2:n.*5457T>A
ENST00000659194.3:c.14347T>A	ENSP00000499653.3:p.Phe4783Ile
ENST00000660292.2:c.14386T>A	ENSP00000499787.2:p.Phe4796Ile
ENST00000659194.2:c.6536T>A
ENST00000366574.7:c.14365T>A MANE Select	ENSP00000355533.2:p.Phe4789Ile
ENST00000360064.7:c.14314T>A	ENSP00000353174.7:p.Phe4772Ile
ENST00000366574.6:c.14365T>A	ENSP00000355533.2:p.Phe4789Ile
ENST00000608590.5:n.876T>A
NM_001035.2:c.14365T>A	NP_001026.2:p.Phe4789Ile
XM_006711802.2:c.14419T>A	XP_006711865.1:p.Phe4807Ile
XM_006711803.2:c.14416T>A	XP_006711866.1:p.Phe4806Ile
XM_006711804.2:c.14395T>A	XP_006711867.1:p.Phe4799Ile
XM_006711805.2:c.14389T>A	XP_006711868.1:p.Phe4797Ile
XM_006711806.2:c.14383T>A	XP_006711869.1:p.Phe4795Ile
XM_006711807.2:c.14359T>A	XP_006711870.1:p.Phe4787Ile
XM_006711808.2:c.14182T>A	XP_006711871.1:p.Phe4728Ile
XM_006711810.2:c.14326T>A	XP_006711873.1:p.Phe4776Ile
XM_006711802.3:c.14419T>A	XP_006711865.1:p.Phe4807Ile
XM_006711803.3:c.14416T>A	XP_006711866.1:p.Phe4806Ile
XM_006711804.3:c.14395T>A	XP_006711867.1:p.Phe4799Ile
XM_006711805.3:c.14389T>A	XP_006711868.1:p.Phe4797Ile
XM_006711806.3:c.14383T>A	XP_006711869.1:p.Phe4795Ile
XM_006711807.3:c.14359T>A	XP_006711870.1:p.Phe4787Ile
XM_006711808.3:c.14182T>A	XP_006711871.1:p.Phe4728Ile
XM_006711810.3:c.14326T>A	XP_006711873.1:p.Phe4776Ile
XM_017002028.1:c.14398T>A	XP_016857517.1:p.Phe4800Ile
NM_001035.3:c.14365T>A MANE Select	NP_001026.2:p.Phe4789Ile