Canonical Allele Identifier: CA345413427

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947491G>C (hg19) ; chr1:g.237784191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784191G>C , CM000663.2:g.237784191G>C	GRCh38
NC_000001.10:g.237947491G>C , CM000663.1:g.237947491G>C	GRCh37
NC_000001.9:g.236014114G>C	NCBI36
NG_008799.2:g.746790G>C
NG_008799.3:g.747008G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3571G>C	ENSP00000499659.2:n.*3571G>C
ENST00000659194.3:c.12467G>C	ENSP00000499653.3:p.Trp4156Ser
ENST00000660292.2:c.12500G>C	ENSP00000499787.2:p.Trp4167Ser
ENST00000659194.2:c.4656G>C
ENST00000366574.7:c.12479G>C MANE Select	ENSP00000355533.2:p.Trp4160Ser
ENST00000659194.1:c.4656G>C
ENST00000660292.1:c.2532G>C
ENST00000360064.7:c.12431G>C	ENSP00000353174.7:p.Trp4144Ser
ENST00000366574.6:c.12479G>C	ENSP00000355533.2:p.Trp4160Ser
ENST00000609119.1:n.3674G>C
NM_001035.2:c.12479G>C	NP_001026.2:p.Trp4160Ser
XM_006711802.2:c.12533G>C	XP_006711865.1:p.Trp4178Ser
XM_006711803.2:c.12530G>C	XP_006711866.1:p.Trp4177Ser
XM_006711804.2:c.12509G>C	XP_006711867.1:p.Trp4170Ser
XM_006711805.2:c.12503G>C	XP_006711868.1:p.Trp4168Ser
XM_006711806.2:c.12497G>C	XP_006711869.1:p.Trp4166Ser
XM_006711807.2:c.12473G>C	XP_006711870.1:p.Trp4158Ser
XM_006711808.2:c.12296G>C	XP_006711871.1:p.Trp4099Ser
XM_006711810.2:c.12440G>C	XP_006711873.1:p.Trp4147Ser
XM_006711802.3:c.12533G>C	XP_006711865.1:p.Trp4178Ser
XM_006711803.3:c.12530G>C	XP_006711866.1:p.Trp4177Ser
XM_006711804.3:c.12509G>C	XP_006711867.1:p.Trp4170Ser
XM_006711805.3:c.12503G>C	XP_006711868.1:p.Trp4168Ser
XM_006711806.3:c.12497G>C	XP_006711869.1:p.Trp4166Ser
XM_006711807.3:c.12473G>C	XP_006711870.1:p.Trp4158Ser
XM_006711808.3:c.12296G>C	XP_006711871.1:p.Trp4099Ser
XM_006711810.3:c.12440G>C	XP_006711873.1:p.Trp4147Ser
XM_017002028.1:c.12512G>C	XP_016857517.1:p.Trp4171Ser
NM_001035.3:c.12479G>C MANE Select	NP_001026.2:p.Trp4160Ser