Canonical Allele Identifier: CA345413884

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784383-A-C
• MyVariant Identifiers: chr1:g.237947683A>C (hg19) ; chr1:g.237784383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784383A>C , CM000663.2:g.237784383A>C	GRCh38
NC_000001.10:g.237947683A>C , CM000663.1:g.237947683A>C	GRCh37
NC_000001.9:g.236014306A>C	NCBI36
NG_008799.2:g.746982A>C
NG_008799.3:g.747200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3763A>C	ENSP00000499659.2:n.*3763A>C
ENST00000659194.3:c.12659A>C	ENSP00000499653.3:p.Glu4220Ala
ENST00000660292.2:c.12692A>C	ENSP00000499787.2:p.Glu4231Ala
ENST00000659194.2:c.4848A>C
ENST00000366574.7:c.12671A>C MANE Select	ENSP00000355533.2:p.Glu4224Ala
ENST00000659194.1:c.4848A>C
ENST00000660292.1:c.2724A>C
ENST00000360064.7:c.12623A>C	ENSP00000353174.7:p.Glu4208Ala
ENST00000366574.6:c.12671A>C	ENSP00000355533.2:p.Glu4224Ala
ENST00000609119.1:n.3866A>C
NM_001035.2:c.12671A>C	NP_001026.2:p.Glu4224Ala
XM_006711802.2:c.12725A>C	XP_006711865.1:p.Glu4242Ala
XM_006711803.2:c.12722A>C	XP_006711866.1:p.Glu4241Ala
XM_006711804.2:c.12701A>C	XP_006711867.1:p.Glu4234Ala
XM_006711805.2:c.12695A>C	XP_006711868.1:p.Glu4232Ala
XM_006711806.2:c.12689A>C	XP_006711869.1:p.Glu4230Ala
XM_006711807.2:c.12665A>C	XP_006711870.1:p.Glu4222Ala
XM_006711808.2:c.12488A>C	XP_006711871.1:p.Glu4163Ala
XM_006711810.2:c.12632A>C	XP_006711873.1:p.Glu4211Ala
XM_006711802.3:c.12725A>C	XP_006711865.1:p.Glu4242Ala
XM_006711803.3:c.12722A>C	XP_006711866.1:p.Glu4241Ala
XM_006711804.3:c.12701A>C	XP_006711867.1:p.Glu4234Ala
XM_006711805.3:c.12695A>C	XP_006711868.1:p.Glu4232Ala
XM_006711806.3:c.12689A>C	XP_006711869.1:p.Glu4230Ala
XM_006711807.3:c.12665A>C	XP_006711870.1:p.Glu4222Ala
XM_006711808.3:c.12488A>C	XP_006711871.1:p.Glu4163Ala
XM_006711810.3:c.12632A>C	XP_006711873.1:p.Glu4211Ala
XM_017002028.1:c.12704A>C	XP_016857517.1:p.Glu4235Ala
NM_001035.3:c.12671A>C MANE Select	NP_001026.2:p.Glu4224Ala