Canonical Allele Identifier: CA345406674

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934133T>A (hg19) ; chr1:g.237770833T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770833T>A , CM000663.2:g.237770833T>A	GRCh38
NC_000001.10:g.237934133T>A , CM000663.1:g.237934133T>A	GRCh37
NC_000001.9:g.236000756T>A	NCBI36
NG_008799.2:g.733432T>A
NG_008799.3:g.733650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2595T>A	ENSP00000499659.2:n.*2595T>A
ENST00000659194.3:c.11491T>A	ENSP00000499653.3:p.Phe3831Ile
ENST00000660292.2:c.11524T>A	ENSP00000499787.2:p.Phe3842Ile
ENST00000659194.2:c.3680T>A
ENST00000366574.7:c.11503T>A MANE Select	ENSP00000355533.2:p.Phe3835Ile
ENST00000659194.1:c.3680T>A
ENST00000660292.1:c.1556T>A
ENST00000360064.7:c.11455T>A	ENSP00000353174.7:p.Phe3819Ile
ENST00000366574.6:c.11503T>A	ENSP00000355533.2:p.Phe3835Ile
ENST00000609119.1:n.2698T>A
NM_001035.2:c.11503T>A	NP_001026.2:p.Phe3835Ile
XM_006711802.2:c.11557T>A	XP_006711865.1:p.Phe3853Ile
XM_006711803.2:c.11554T>A	XP_006711866.1:p.Phe3852Ile
XM_006711804.2:c.11533T>A	XP_006711867.1:p.Phe3845Ile
XM_006711805.2:c.11527T>A	XP_006711868.1:p.Phe3843Ile
XM_006711806.2:c.11521T>A	XP_006711869.1:p.Phe3841Ile
XM_006711807.2:c.11497T>A	XP_006711870.1:p.Phe3833Ile
XM_006711808.2:c.11320T>A	XP_006711871.1:p.Phe3774Ile
XM_006711810.2:c.11464T>A	XP_006711873.1:p.Phe3822Ile
XM_006711802.3:c.11557T>A	XP_006711865.1:p.Phe3853Ile
XM_006711803.3:c.11554T>A	XP_006711866.1:p.Phe3852Ile
XM_006711804.3:c.11533T>A	XP_006711867.1:p.Phe3845Ile
XM_006711805.3:c.11527T>A	XP_006711868.1:p.Phe3843Ile
XM_006711806.3:c.11521T>A	XP_006711869.1:p.Phe3841Ile
XM_006711807.3:c.11497T>A	XP_006711870.1:p.Phe3833Ile
XM_006711808.3:c.11320T>A	XP_006711871.1:p.Phe3774Ile
XM_006711810.3:c.11464T>A	XP_006711873.1:p.Phe3822Ile
XM_017002028.1:c.11536T>A	XP_016857517.1:p.Phe3846Ile
NM_001035.3:c.11503T>A MANE Select	NP_001026.2:p.Phe3835Ile