Canonical Allele Identifier: CA345406672

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934132G>C (hg19) ; chr1:g.237770832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770832G>C , CM000663.2:g.237770832G>C	GRCh38
NC_000001.10:g.237934132G>C , CM000663.1:g.237934132G>C	GRCh37
NC_000001.9:g.236000755G>C	NCBI36
NG_008799.2:g.733431G>C
NG_008799.3:g.733649G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2594G>C	ENSP00000499659.2:n.*2594G>C
ENST00000659194.3:c.11490G>C	ENSP00000499653.3:p.Glu3830Asp
ENST00000660292.2:c.11523G>C	ENSP00000499787.2:p.Glu3841Asp
ENST00000659194.2:c.3679G>C
ENST00000366574.7:c.11502G>C MANE Select	ENSP00000355533.2:p.Glu3834Asp
ENST00000659194.1:c.3679G>C
ENST00000660292.1:c.1555G>C
ENST00000360064.7:c.11454G>C	ENSP00000353174.7:p.Glu3818Asp
ENST00000366574.6:c.11502G>C	ENSP00000355533.2:p.Glu3834Asp
ENST00000609119.1:n.2697G>C
NM_001035.2:c.11502G>C	NP_001026.2:p.Glu3834Asp
XM_006711802.2:c.11556G>C	XP_006711865.1:p.Glu3852Asp
XM_006711803.2:c.11553G>C	XP_006711866.1:p.Glu3851Asp
XM_006711804.2:c.11532G>C	XP_006711867.1:p.Glu3844Asp
XM_006711805.2:c.11526G>C	XP_006711868.1:p.Glu3842Asp
XM_006711806.2:c.11520G>C	XP_006711869.1:p.Glu3840Asp
XM_006711807.2:c.11496G>C	XP_006711870.1:p.Glu3832Asp
XM_006711808.2:c.11319G>C	XP_006711871.1:p.Glu3773Asp
XM_006711810.2:c.11463G>C	XP_006711873.1:p.Glu3821Asp
XM_006711802.3:c.11556G>C	XP_006711865.1:p.Glu3852Asp
XM_006711803.3:c.11553G>C	XP_006711866.1:p.Glu3851Asp
XM_006711804.3:c.11532G>C	XP_006711867.1:p.Glu3844Asp
XM_006711805.3:c.11526G>C	XP_006711868.1:p.Glu3842Asp
XM_006711806.3:c.11520G>C	XP_006711869.1:p.Glu3840Asp
XM_006711807.3:c.11496G>C	XP_006711870.1:p.Glu3832Asp
XM_006711808.3:c.11319G>C	XP_006711871.1:p.Glu3773Asp
XM_006711810.3:c.11463G>C	XP_006711873.1:p.Glu3821Asp
XM_017002028.1:c.11535G>C	XP_016857517.1:p.Glu3845Asp
NM_001035.3:c.11502G>C MANE Select	NP_001026.2:p.Glu3834Asp