Canonical Allele Identifier: CA345406669

Gene: RYR2

Linked Data

• dbSNP Id: rs1573882373
• gnomAD v4: 1-237770831-A-C
• MyVariant Identifiers: chr1:g.237934131A>C (hg19) ; chr1:g.237770831A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770831A>C , CM000663.2:g.237770831A>C	GRCh38
NC_000001.10:g.237934131A>C , CM000663.1:g.237934131A>C	GRCh37
NC_000001.9:g.236000754A>C	NCBI36
NG_008799.2:g.733430A>C
NG_008799.3:g.733648A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2593A>C	ENSP00000499659.2:n.*2593A>C
ENST00000659194.3:c.11489A>C	ENSP00000499653.3:p.Glu3830Ala
ENST00000660292.2:c.11522A>C	ENSP00000499787.2:p.Glu3841Ala
ENST00000659194.2:c.3678A>C
ENST00000366574.7:c.11501A>C MANE Select	ENSP00000355533.2:p.Glu3834Ala
ENST00000659194.1:c.3678A>C
ENST00000660292.1:c.1554A>C
ENST00000360064.7:c.11453A>C	ENSP00000353174.7:p.Glu3818Ala
ENST00000366574.6:c.11501A>C	ENSP00000355533.2:p.Glu3834Ala
ENST00000609119.1:n.2696A>C
NM_001035.2:c.11501A>C	NP_001026.2:p.Glu3834Ala
XM_006711802.2:c.11555A>C	XP_006711865.1:p.Glu3852Ala
XM_006711803.2:c.11552A>C	XP_006711866.1:p.Glu3851Ala
XM_006711804.2:c.11531A>C	XP_006711867.1:p.Glu3844Ala
XM_006711805.2:c.11525A>C	XP_006711868.1:p.Glu3842Ala
XM_006711806.2:c.11519A>C	XP_006711869.1:p.Glu3840Ala
XM_006711807.2:c.11495A>C	XP_006711870.1:p.Glu3832Ala
XM_006711808.2:c.11318A>C	XP_006711871.1:p.Glu3773Ala
XM_006711810.2:c.11462A>C	XP_006711873.1:p.Glu3821Ala
XM_006711802.3:c.11555A>C	XP_006711865.1:p.Glu3852Ala
XM_006711803.3:c.11552A>C	XP_006711866.1:p.Glu3851Ala
XM_006711804.3:c.11531A>C	XP_006711867.1:p.Glu3844Ala
XM_006711805.3:c.11525A>C	XP_006711868.1:p.Glu3842Ala
XM_006711806.3:c.11519A>C	XP_006711869.1:p.Glu3840Ala
XM_006711807.3:c.11495A>C	XP_006711870.1:p.Glu3832Ala
XM_006711808.3:c.11318A>C	XP_006711871.1:p.Glu3773Ala
XM_006711810.3:c.11462A>C	XP_006711873.1:p.Glu3821Ala
XM_017002028.1:c.11534A>C	XP_016857517.1:p.Glu3845Ala
NM_001035.3:c.11501A>C MANE Select	NP_001026.2:p.Glu3834Ala