Canonical Allele Identifier: CA345413198

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947433A>C (hg19) ; chr1:g.237784133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784133A>C , CM000663.2:g.237784133A>C	GRCh38
NC_000001.10:g.237947433A>C , CM000663.1:g.237947433A>C	GRCh37
NC_000001.9:g.236014056A>C	NCBI36
NG_008799.2:g.746732A>C
NG_008799.3:g.746950A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3513A>C	ENSP00000499659.2:n.*3513A>C
ENST00000659194.3:c.12409A>C	ENSP00000499653.3:p.Ser4137Arg
ENST00000660292.2:c.12442A>C	ENSP00000499787.2:p.Ser4148Arg
ENST00000659194.2:c.4598A>C
ENST00000366574.7:c.12421A>C MANE Select	ENSP00000355533.2:p.Ser4141Arg
ENST00000659194.1:c.4598A>C
ENST00000660292.1:c.2474A>C
ENST00000360064.7:c.12373A>C	ENSP00000353174.7:p.Ser4125Arg
ENST00000366574.6:c.12421A>C	ENSP00000355533.2:p.Ser4141Arg
ENST00000609119.1:n.3616A>C
NM_001035.2:c.12421A>C	NP_001026.2:p.Ser4141Arg
XM_006711802.2:c.12475A>C	XP_006711865.1:p.Ser4159Arg
XM_006711803.2:c.12472A>C	XP_006711866.1:p.Ser4158Arg
XM_006711804.2:c.12451A>C	XP_006711867.1:p.Ser4151Arg
XM_006711805.2:c.12445A>C	XP_006711868.1:p.Ser4149Arg
XM_006711806.2:c.12439A>C	XP_006711869.1:p.Ser4147Arg
XM_006711807.2:c.12415A>C	XP_006711870.1:p.Ser4139Arg
XM_006711808.2:c.12238A>C	XP_006711871.1:p.Ser4080Arg
XM_006711810.2:c.12382A>C	XP_006711873.1:p.Ser4128Arg
XM_006711802.3:c.12475A>C	XP_006711865.1:p.Ser4159Arg
XM_006711803.3:c.12472A>C	XP_006711866.1:p.Ser4158Arg
XM_006711804.3:c.12451A>C	XP_006711867.1:p.Ser4151Arg
XM_006711805.3:c.12445A>C	XP_006711868.1:p.Ser4149Arg
XM_006711806.3:c.12439A>C	XP_006711869.1:p.Ser4147Arg
XM_006711807.3:c.12415A>C	XP_006711870.1:p.Ser4139Arg
XM_006711808.3:c.12238A>C	XP_006711871.1:p.Ser4080Arg
XM_006711810.3:c.12382A>C	XP_006711873.1:p.Ser4128Arg
XM_017002028.1:c.12454A>C	XP_016857517.1:p.Ser4152Arg
NM_001035.3:c.12421A>C MANE Select	NP_001026.2:p.Ser4141Arg