Canonical Allele Identifier: CA345406676

Gene: RYR2

Linked Data

• ClinVar Variation Id: 919360
• ClinVar RCV Id: RCV001177495
• dbSNP Id: rs1694211408
• gnomAD v4: 1-237770833-T-C
• MyVariant Identifiers: chr1:g.237934133T>C (hg19) ; chr1:g.237770833T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2595T>C	ENSP00000499659.2:n.*2595T>C
ENST00000659194.3:c.11491T>C	ENSP00000499653.3:p.Phe3831Leu
ENST00000660292.2:c.11524T>C	ENSP00000499787.2:p.Phe3842Leu
ENST00000659194.2:c.3680T>C
ENST00000366574.7:c.11503T>C MANE Select	ENSP00000355533.2:p.Phe3835Leu
ENST00000659194.1:c.3680T>C
ENST00000660292.1:c.1556T>C
ENST00000360064.7:c.11455T>C	ENSP00000353174.7:p.Phe3819Leu
ENST00000366574.6:c.11503T>C	ENSP00000355533.2:p.Phe3835Leu
ENST00000609119.1:n.2698T>C
NM_001035.2:c.11503T>C	NP_001026.2:p.Phe3835Leu
XM_006711802.2:c.11557T>C	XP_006711865.1:p.Phe3853Leu
XM_006711803.2:c.11554T>C	XP_006711866.1:p.Phe3852Leu
XM_006711804.2:c.11533T>C	XP_006711867.1:p.Phe3845Leu
XM_006711805.2:c.11527T>C	XP_006711868.1:p.Phe3843Leu
XM_006711806.2:c.11521T>C	XP_006711869.1:p.Phe3841Leu
XM_006711807.2:c.11497T>C	XP_006711870.1:p.Phe3833Leu
XM_006711808.2:c.11320T>C	XP_006711871.1:p.Phe3774Leu
XM_006711810.2:c.11464T>C	XP_006711873.1:p.Phe3822Leu
XM_006711802.3:c.11557T>C	XP_006711865.1:p.Phe3853Leu
XM_006711803.3:c.11554T>C	XP_006711866.1:p.Phe3852Leu
XM_006711804.3:c.11533T>C	XP_006711867.1:p.Phe3845Leu
XM_006711805.3:c.11527T>C	XP_006711868.1:p.Phe3843Leu
XM_006711806.3:c.11521T>C	XP_006711869.1:p.Phe3841Leu
XM_006711807.3:c.11497T>C	XP_006711870.1:p.Phe3833Leu
XM_006711808.3:c.11320T>C	XP_006711871.1:p.Phe3774Leu
XM_006711810.3:c.11464T>C	XP_006711873.1:p.Phe3822Leu
XM_017002028.1:c.11536T>C	XP_016857517.1:p.Phe3846Leu
NM_001035.3:c.11503T>C MANE Select	NP_001026.2:p.Phe3835Leu