Canonical Allele Identifier: CA345413562

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947544A>C (hg19) ; chr1:g.237784244A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784244A>C , CM000663.2:g.237784244A>C	GRCh38
NC_000001.10:g.237947544A>C , CM000663.1:g.237947544A>C	GRCh37
NC_000001.9:g.236014167A>C	NCBI36
NG_008799.2:g.746843A>C
NG_008799.3:g.747061A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3624A>C	ENSP00000499659.2:n.*3624A>C
ENST00000659194.3:c.12520A>C	ENSP00000499653.3:p.Asn4174His
ENST00000660292.2:c.12553A>C	ENSP00000499787.2:p.Asn4185His
ENST00000659194.2:c.4709A>C
ENST00000366574.7:c.12532A>C MANE Select	ENSP00000355533.2:p.Asn4178His
ENST00000659194.1:c.4709A>C
ENST00000660292.1:c.2585A>C
ENST00000360064.7:c.12484A>C	ENSP00000353174.7:p.Asn4162His
ENST00000366574.6:c.12532A>C	ENSP00000355533.2:p.Asn4178His
ENST00000609119.1:n.3727A>C
NM_001035.2:c.12532A>C	NP_001026.2:p.Asn4178His
XM_006711802.2:c.12586A>C	XP_006711865.1:p.Asn4196His
XM_006711803.2:c.12583A>C	XP_006711866.1:p.Asn4195His
XM_006711804.2:c.12562A>C	XP_006711867.1:p.Asn4188His
XM_006711805.2:c.12556A>C	XP_006711868.1:p.Asn4186His
XM_006711806.2:c.12550A>C	XP_006711869.1:p.Asn4184His
XM_006711807.2:c.12526A>C	XP_006711870.1:p.Asn4176His
XM_006711808.2:c.12349A>C	XP_006711871.1:p.Asn4117His
XM_006711810.2:c.12493A>C	XP_006711873.1:p.Asn4165His
XM_006711802.3:c.12586A>C	XP_006711865.1:p.Asn4196His
XM_006711803.3:c.12583A>C	XP_006711866.1:p.Asn4195His
XM_006711804.3:c.12562A>C	XP_006711867.1:p.Asn4188His
XM_006711805.3:c.12556A>C	XP_006711868.1:p.Asn4186His
XM_006711806.3:c.12550A>C	XP_006711869.1:p.Asn4184His
XM_006711807.3:c.12526A>C	XP_006711870.1:p.Asn4176His
XM_006711808.3:c.12349A>C	XP_006711871.1:p.Asn4117His
XM_006711810.3:c.12493A>C	XP_006711873.1:p.Asn4165His
XM_017002028.1:c.12565A>C	XP_016857517.1:p.Asn4189His
NM_001035.3:c.12532A>C MANE Select	NP_001026.2:p.Asn4178His