Canonical Allele Identifier: CA345413811

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947652A>T (hg19) ; chr1:g.237784352A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784352A>T , CM000663.2:g.237784352A>T	GRCh38
NC_000001.10:g.237947652A>T , CM000663.1:g.237947652A>T	GRCh37
NC_000001.9:g.236014275A>T	NCBI36
NG_008799.2:g.746951A>T
NG_008799.3:g.747169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3732A>T	ENSP00000499659.2:n.*3732A>T
ENST00000659194.3:c.12628A>T	ENSP00000499653.3:p.Arg4210Trp
ENST00000660292.2:c.12661A>T	ENSP00000499787.2:p.Arg4221Trp
ENST00000659194.2:c.4817A>T
ENST00000366574.7:c.12640A>T MANE Select	ENSP00000355533.2:p.Arg4214Trp
ENST00000659194.1:c.4817A>T
ENST00000660292.1:c.2693A>T
ENST00000360064.7:c.12592A>T	ENSP00000353174.7:p.Arg4198Trp
ENST00000366574.6:c.12640A>T	ENSP00000355533.2:p.Arg4214Trp
ENST00000609119.1:n.3835A>T
NM_001035.2:c.12640A>T	NP_001026.2:p.Arg4214Trp
XM_006711802.2:c.12694A>T	XP_006711865.1:p.Arg4232Trp
XM_006711803.2:c.12691A>T	XP_006711866.1:p.Arg4231Trp
XM_006711804.2:c.12670A>T	XP_006711867.1:p.Arg4224Trp
XM_006711805.2:c.12664A>T	XP_006711868.1:p.Arg4222Trp
XM_006711806.2:c.12658A>T	XP_006711869.1:p.Arg4220Trp
XM_006711807.2:c.12634A>T	XP_006711870.1:p.Arg4212Trp
XM_006711808.2:c.12457A>T	XP_006711871.1:p.Arg4153Trp
XM_006711810.2:c.12601A>T	XP_006711873.1:p.Arg4201Trp
XM_006711802.3:c.12694A>T	XP_006711865.1:p.Arg4232Trp
XM_006711803.3:c.12691A>T	XP_006711866.1:p.Arg4231Trp
XM_006711804.3:c.12670A>T	XP_006711867.1:p.Arg4224Trp
XM_006711805.3:c.12664A>T	XP_006711868.1:p.Arg4222Trp
XM_006711806.3:c.12658A>T	XP_006711869.1:p.Arg4220Trp
XM_006711807.3:c.12634A>T	XP_006711870.1:p.Arg4212Trp
XM_006711808.3:c.12457A>T	XP_006711871.1:p.Arg4153Trp
XM_006711810.3:c.12601A>T	XP_006711873.1:p.Arg4201Trp
XM_017002028.1:c.12673A>T	XP_016857517.1:p.Arg4225Trp
NM_001035.3:c.12640A>T MANE Select	NP_001026.2:p.Arg4214Trp