Canonical Allele Identifier: CA345406675

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2145348
• ClinVar RCV Id: RCV003071398
• MyVariant Identifiers: chr1:g.237934133T>G (hg19) ; chr1:g.237770833T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2595T>G	ENSP00000499659.2:n.*2595T>G
ENST00000659194.3:c.11491T>G	ENSP00000499653.3:p.Phe3831Val
ENST00000660292.2:c.11524T>G	ENSP00000499787.2:p.Phe3842Val
ENST00000659194.2:c.3680T>G
ENST00000366574.7:c.11503T>G MANE Select	ENSP00000355533.2:p.Phe3835Val
ENST00000659194.1:c.3680T>G
ENST00000660292.1:c.1556T>G
ENST00000360064.7:c.11455T>G	ENSP00000353174.7:p.Phe3819Val
ENST00000366574.6:c.11503T>G	ENSP00000355533.2:p.Phe3835Val
ENST00000609119.1:n.2698T>G
NM_001035.2:c.11503T>G	NP_001026.2:p.Phe3835Val
XM_006711802.2:c.11557T>G	XP_006711865.1:p.Phe3853Val
XM_006711803.2:c.11554T>G	XP_006711866.1:p.Phe3852Val
XM_006711804.2:c.11533T>G	XP_006711867.1:p.Phe3845Val
XM_006711805.2:c.11527T>G	XP_006711868.1:p.Phe3843Val
XM_006711806.2:c.11521T>G	XP_006711869.1:p.Phe3841Val
XM_006711807.2:c.11497T>G	XP_006711870.1:p.Phe3833Val
XM_006711808.2:c.11320T>G	XP_006711871.1:p.Phe3774Val
XM_006711810.2:c.11464T>G	XP_006711873.1:p.Phe3822Val
XM_006711802.3:c.11557T>G	XP_006711865.1:p.Phe3853Val
XM_006711803.3:c.11554T>G	XP_006711866.1:p.Phe3852Val
XM_006711804.3:c.11533T>G	XP_006711867.1:p.Phe3845Val
XM_006711805.3:c.11527T>G	XP_006711868.1:p.Phe3843Val
XM_006711806.3:c.11521T>G	XP_006711869.1:p.Phe3841Val
XM_006711807.3:c.11497T>G	XP_006711870.1:p.Phe3833Val
XM_006711808.3:c.11320T>G	XP_006711871.1:p.Phe3774Val
XM_006711810.3:c.11464T>G	XP_006711873.1:p.Phe3822Val
XM_017002028.1:c.11536T>G	XP_016857517.1:p.Phe3846Val
NM_001035.3:c.11503T>G MANE Select	NP_001026.2:p.Phe3835Val