Canonical Allele Identifier: CA345413463

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947503A>T (hg19) ; chr1:g.237784203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784203A>T , CM000663.2:g.237784203A>T	GRCh38
NC_000001.10:g.237947503A>T , CM000663.1:g.237947503A>T	GRCh37
NC_000001.9:g.236014126A>T	NCBI36
NG_008799.2:g.746802A>T
NG_008799.3:g.747020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3583A>T	ENSP00000499659.2:n.*3583A>T
ENST00000659194.3:c.12479A>T	ENSP00000499653.3:p.Gln4160Leu
ENST00000660292.2:c.12512A>T	ENSP00000499787.2:p.Gln4171Leu
ENST00000659194.2:c.4668A>T
ENST00000366574.7:c.12491A>T MANE Select	ENSP00000355533.2:p.Gln4164Leu
ENST00000659194.1:c.4668A>T
ENST00000660292.1:c.2544A>T
ENST00000360064.7:c.12443A>T	ENSP00000353174.7:p.Gln4148Leu
ENST00000366574.6:c.12491A>T	ENSP00000355533.2:p.Gln4164Leu
ENST00000609119.1:n.3686A>T
NM_001035.2:c.12491A>T	NP_001026.2:p.Gln4164Leu
XM_006711802.2:c.12545A>T	XP_006711865.1:p.Gln4182Leu
XM_006711803.2:c.12542A>T	XP_006711866.1:p.Gln4181Leu
XM_006711804.2:c.12521A>T	XP_006711867.1:p.Gln4174Leu
XM_006711805.2:c.12515A>T	XP_006711868.1:p.Gln4172Leu
XM_006711806.2:c.12509A>T	XP_006711869.1:p.Gln4170Leu
XM_006711807.2:c.12485A>T	XP_006711870.1:p.Gln4162Leu
XM_006711808.2:c.12308A>T	XP_006711871.1:p.Gln4103Leu
XM_006711810.2:c.12452A>T	XP_006711873.1:p.Gln4151Leu
XM_006711802.3:c.12545A>T	XP_006711865.1:p.Gln4182Leu
XM_006711803.3:c.12542A>T	XP_006711866.1:p.Gln4181Leu
XM_006711804.3:c.12521A>T	XP_006711867.1:p.Gln4174Leu
XM_006711805.3:c.12515A>T	XP_006711868.1:p.Gln4172Leu
XM_006711806.3:c.12509A>T	XP_006711869.1:p.Gln4170Leu
XM_006711807.3:c.12485A>T	XP_006711870.1:p.Gln4162Leu
XM_006711808.3:c.12308A>T	XP_006711871.1:p.Gln4103Leu
XM_006711810.3:c.12452A>T	XP_006711873.1:p.Gln4151Leu
XM_017002028.1:c.12524A>T	XP_016857517.1:p.Gln4175Leu
NM_001035.3:c.12491A>T MANE Select	NP_001026.2:p.Gln4164Leu