Canonical Allele Identifier: CA345413512

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947524A>C (hg19) ; chr1:g.237784224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784224A>C , CM000663.2:g.237784224A>C	GRCh38
NC_000001.10:g.237947524A>C , CM000663.1:g.237947524A>C	GRCh37
NC_000001.9:g.236014147A>C	NCBI36
NG_008799.2:g.746823A>C
NG_008799.3:g.747041A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3604A>C	ENSP00000499659.2:n.*3604A>C
ENST00000659194.3:c.12500A>C	ENSP00000499653.3:p.Gln4167Pro
ENST00000660292.2:c.12533A>C	ENSP00000499787.2:p.Gln4178Pro
ENST00000659194.2:c.4689A>C
ENST00000366574.7:c.12512A>C MANE Select	ENSP00000355533.2:p.Gln4171Pro
ENST00000659194.1:c.4689A>C
ENST00000660292.1:c.2565A>C
ENST00000360064.7:c.12464A>C	ENSP00000353174.7:p.Gln4155Pro
ENST00000366574.6:c.12512A>C	ENSP00000355533.2:p.Gln4171Pro
ENST00000609119.1:n.3707A>C
NM_001035.2:c.12512A>C	NP_001026.2:p.Gln4171Pro
XM_006711802.2:c.12566A>C	XP_006711865.1:p.Gln4189Pro
XM_006711803.2:c.12563A>C	XP_006711866.1:p.Gln4188Pro
XM_006711804.2:c.12542A>C	XP_006711867.1:p.Gln4181Pro
XM_006711805.2:c.12536A>C	XP_006711868.1:p.Gln4179Pro
XM_006711806.2:c.12530A>C	XP_006711869.1:p.Gln4177Pro
XM_006711807.2:c.12506A>C	XP_006711870.1:p.Gln4169Pro
XM_006711808.2:c.12329A>C	XP_006711871.1:p.Gln4110Pro
XM_006711810.2:c.12473A>C	XP_006711873.1:p.Gln4158Pro
XM_006711802.3:c.12566A>C	XP_006711865.1:p.Gln4189Pro
XM_006711803.3:c.12563A>C	XP_006711866.1:p.Gln4188Pro
XM_006711804.3:c.12542A>C	XP_006711867.1:p.Gln4181Pro
XM_006711805.3:c.12536A>C	XP_006711868.1:p.Gln4179Pro
XM_006711806.3:c.12530A>C	XP_006711869.1:p.Gln4177Pro
XM_006711807.3:c.12506A>C	XP_006711870.1:p.Gln4169Pro
XM_006711808.3:c.12329A>C	XP_006711871.1:p.Gln4110Pro
XM_006711810.3:c.12473A>C	XP_006711873.1:p.Gln4158Pro
XM_017002028.1:c.12545A>C	XP_016857517.1:p.Gln4182Pro
NM_001035.3:c.12512A>C MANE Select	NP_001026.2:p.Gln4171Pro