Canonical Allele Identifier: CA085173

Gene: RYR2

Linked Data

• dbSNP Id: rs759484925
• ExAC: 1:237947381 G / C
• gnomAD v2: 1-237947381-G-C
• gnomAD v4: 1-237784081-G-C
• MyVariant Identifiers: chr1:g.237947381G>C (hg19) ; chr1:g.237784081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784081G>C , CM000663.2:g.237784081G>C	GRCh38
NC_000001.10:g.237947381G>C , CM000663.1:g.237947381G>C	GRCh37
NC_000001.9:g.236014004G>C	NCBI36
NG_008799.2:g.746680G>C
NG_008799.3:g.746898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3461G>C	ENSP00000499659.2:n.*3461G>C
ENST00000659194.3:c.12357G>C	ENSP00000499653.3:p.Glu4119Asp
ENST00000660292.2:c.12390G>C	ENSP00000499787.2:p.Glu4130Asp
ENST00000659194.2:c.4546G>C
ENST00000366574.7:c.12369G>C MANE Select	ENSP00000355533.2:p.Glu4123Asp
ENST00000659194.1:c.4546G>C
ENST00000660292.1:c.2422G>C
ENST00000360064.7:c.12321G>C	ENSP00000353174.7:p.Glu4107Asp
ENST00000366574.6:c.12369G>C	ENSP00000355533.2:p.Glu4123Asp
ENST00000609119.1:n.3564G>C
NM_001035.2:c.12369G>C	NP_001026.2:p.Glu4123Asp
XM_006711802.2:c.12423G>C	XP_006711865.1:p.Glu4141Asp
XM_006711803.2:c.12420G>C	XP_006711866.1:p.Glu4140Asp
XM_006711804.2:c.12399G>C	XP_006711867.1:p.Glu4133Asp
XM_006711805.2:c.12393G>C	XP_006711868.1:p.Glu4131Asp
XM_006711806.2:c.12387G>C	XP_006711869.1:p.Glu4129Asp
XM_006711807.2:c.12363G>C	XP_006711870.1:p.Glu4121Asp
XM_006711808.2:c.12186G>C	XP_006711871.1:p.Glu4062Asp
XM_006711810.2:c.12330G>C	XP_006711873.1:p.Glu4110Asp
XM_006711802.3:c.12423G>C	XP_006711865.1:p.Glu4141Asp
XM_006711803.3:c.12420G>C	XP_006711866.1:p.Glu4140Asp
XM_006711804.3:c.12399G>C	XP_006711867.1:p.Glu4133Asp
XM_006711805.3:c.12393G>C	XP_006711868.1:p.Glu4131Asp
XM_006711806.3:c.12387G>C	XP_006711869.1:p.Glu4129Asp
XM_006711807.3:c.12363G>C	XP_006711870.1:p.Glu4121Asp
XM_006711808.3:c.12186G>C	XP_006711871.1:p.Glu4062Asp
XM_006711810.3:c.12330G>C	XP_006711873.1:p.Glu4110Asp
XM_017002028.1:c.12402G>C	XP_016857517.1:p.Glu4134Asp
NM_001035.3:c.12369G>C MANE Select	NP_001026.2:p.Glu4123Asp