Canonical Allele Identifier: CA345413734

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784317-T-C
• MyVariant Identifiers: chr1:g.237947617T>C (hg19) ; chr1:g.237784317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784317T>C , CM000663.2:g.237784317T>C	GRCh38
NC_000001.10:g.237947617T>C , CM000663.1:g.237947617T>C	GRCh37
NC_000001.9:g.236014240T>C	NCBI36
NG_008799.2:g.746916T>C
NG_008799.3:g.747134T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3697T>C	ENSP00000499659.2:n.*3697T>C
ENST00000659194.3:c.12593T>C	ENSP00000499653.3:p.Leu4198Pro
ENST00000660292.2:c.12626T>C	ENSP00000499787.2:p.Leu4209Pro
ENST00000659194.2:c.4782T>C
ENST00000366574.7:c.12605T>C MANE Select	ENSP00000355533.2:p.Leu4202Pro
ENST00000659194.1:c.4782T>C
ENST00000660292.1:c.2658T>C
ENST00000360064.7:c.12557T>C	ENSP00000353174.7:p.Leu4186Pro
ENST00000366574.6:c.12605T>C	ENSP00000355533.2:p.Leu4202Pro
ENST00000609119.1:n.3800T>C
NM_001035.2:c.12605T>C	NP_001026.2:p.Leu4202Pro
XM_006711802.2:c.12659T>C	XP_006711865.1:p.Leu4220Pro
XM_006711803.2:c.12656T>C	XP_006711866.1:p.Leu4219Pro
XM_006711804.2:c.12635T>C	XP_006711867.1:p.Leu4212Pro
XM_006711805.2:c.12629T>C	XP_006711868.1:p.Leu4210Pro
XM_006711806.2:c.12623T>C	XP_006711869.1:p.Leu4208Pro
XM_006711807.2:c.12599T>C	XP_006711870.1:p.Leu4200Pro
XM_006711808.2:c.12422T>C	XP_006711871.1:p.Leu4141Pro
XM_006711810.2:c.12566T>C	XP_006711873.1:p.Leu4189Pro
XM_006711802.3:c.12659T>C	XP_006711865.1:p.Leu4220Pro
XM_006711803.3:c.12656T>C	XP_006711866.1:p.Leu4219Pro
XM_006711804.3:c.12635T>C	XP_006711867.1:p.Leu4212Pro
XM_006711805.3:c.12629T>C	XP_006711868.1:p.Leu4210Pro
XM_006711806.3:c.12623T>C	XP_006711869.1:p.Leu4208Pro
XM_006711807.3:c.12599T>C	XP_006711870.1:p.Leu4200Pro
XM_006711808.3:c.12422T>C	XP_006711871.1:p.Leu4141Pro
XM_006711810.3:c.12566T>C	XP_006711873.1:p.Leu4189Pro
XM_017002028.1:c.12638T>C	XP_016857517.1:p.Leu4213Pro
NM_001035.3:c.12605T>C MANE Select	NP_001026.2:p.Leu4202Pro