Canonical Allele Identifier: CA345413548

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947536A>G (hg19) ; chr1:g.237784236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784236A>G , CM000663.2:g.237784236A>G	GRCh38
NC_000001.10:g.237947536A>G , CM000663.1:g.237947536A>G	GRCh37
NC_000001.9:g.236014159A>G	NCBI36
NG_008799.2:g.746835A>G
NG_008799.3:g.747053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3616A>G	ENSP00000499659.2:n.*3616A>G
ENST00000659194.3:c.12512A>G	ENSP00000499653.3:p.Asp4171Gly
ENST00000660292.2:c.12545A>G	ENSP00000499787.2:p.Asp4182Gly
ENST00000659194.2:c.4701A>G
ENST00000366574.7:c.12524A>G MANE Select	ENSP00000355533.2:p.Asp4175Gly
ENST00000659194.1:c.4701A>G
ENST00000660292.1:c.2577A>G
ENST00000360064.7:c.12476A>G	ENSP00000353174.7:p.Asp4159Gly
ENST00000366574.6:c.12524A>G	ENSP00000355533.2:p.Asp4175Gly
ENST00000609119.1:n.3719A>G
NM_001035.2:c.12524A>G	NP_001026.2:p.Asp4175Gly
XM_006711802.2:c.12578A>G	XP_006711865.1:p.Asp4193Gly
XM_006711803.2:c.12575A>G	XP_006711866.1:p.Asp4192Gly
XM_006711804.2:c.12554A>G	XP_006711867.1:p.Asp4185Gly
XM_006711805.2:c.12548A>G	XP_006711868.1:p.Asp4183Gly
XM_006711806.2:c.12542A>G	XP_006711869.1:p.Asp4181Gly
XM_006711807.2:c.12518A>G	XP_006711870.1:p.Asp4173Gly
XM_006711808.2:c.12341A>G	XP_006711871.1:p.Asp4114Gly
XM_006711810.2:c.12485A>G	XP_006711873.1:p.Asp4162Gly
XM_006711802.3:c.12578A>G	XP_006711865.1:p.Asp4193Gly
XM_006711803.3:c.12575A>G	XP_006711866.1:p.Asp4192Gly
XM_006711804.3:c.12554A>G	XP_006711867.1:p.Asp4185Gly
XM_006711805.3:c.12548A>G	XP_006711868.1:p.Asp4183Gly
XM_006711806.3:c.12542A>G	XP_006711869.1:p.Asp4181Gly
XM_006711807.3:c.12518A>G	XP_006711870.1:p.Asp4173Gly
XM_006711808.3:c.12341A>G	XP_006711871.1:p.Asp4114Gly
XM_006711810.3:c.12485A>G	XP_006711873.1:p.Asp4162Gly
XM_017002028.1:c.12557A>G	XP_016857517.1:p.Asp4186Gly
NM_001035.3:c.12524A>G MANE Select	NP_001026.2:p.Asp4175Gly