Canonical Allele Identifier: CA345413132

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784110-T-A
• MyVariant Identifiers: chr1:g.237947410T>A (hg19) ; chr1:g.237784110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784110T>A , CM000663.2:g.237784110T>A	GRCh38
NC_000001.10:g.237947410T>A , CM000663.1:g.237947410T>A	GRCh37
NC_000001.9:g.236014033T>A	NCBI36
NG_008799.2:g.746709T>A
NG_008799.3:g.746927T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3490T>A	ENSP00000499659.2:n.*3490T>A
ENST00000659194.3:c.12386T>A	ENSP00000499653.3:p.Leu4129Gln
ENST00000660292.2:c.12419T>A	ENSP00000499787.2:p.Leu4140Gln
ENST00000659194.2:c.4575T>A
ENST00000366574.7:c.12398T>A MANE Select	ENSP00000355533.2:p.Leu4133Gln
ENST00000659194.1:c.4575T>A
ENST00000660292.1:c.2451T>A
ENST00000360064.7:c.12350T>A	ENSP00000353174.7:p.Leu4117Gln
ENST00000366574.6:c.12398T>A	ENSP00000355533.2:p.Leu4133Gln
ENST00000609119.1:n.3593T>A
NM_001035.2:c.12398T>A	NP_001026.2:p.Leu4133Gln
XM_006711802.2:c.12452T>A	XP_006711865.1:p.Leu4151Gln
XM_006711803.2:c.12449T>A	XP_006711866.1:p.Leu4150Gln
XM_006711804.2:c.12428T>A	XP_006711867.1:p.Leu4143Gln
XM_006711805.2:c.12422T>A	XP_006711868.1:p.Leu4141Gln
XM_006711806.2:c.12416T>A	XP_006711869.1:p.Leu4139Gln
XM_006711807.2:c.12392T>A	XP_006711870.1:p.Leu4131Gln
XM_006711808.2:c.12215T>A	XP_006711871.1:p.Leu4072Gln
XM_006711810.2:c.12359T>A	XP_006711873.1:p.Leu4120Gln
XM_006711802.3:c.12452T>A	XP_006711865.1:p.Leu4151Gln
XM_006711803.3:c.12449T>A	XP_006711866.1:p.Leu4150Gln
XM_006711804.3:c.12428T>A	XP_006711867.1:p.Leu4143Gln
XM_006711805.3:c.12422T>A	XP_006711868.1:p.Leu4141Gln
XM_006711806.3:c.12416T>A	XP_006711869.1:p.Leu4139Gln
XM_006711807.3:c.12392T>A	XP_006711870.1:p.Leu4131Gln
XM_006711808.3:c.12215T>A	XP_006711871.1:p.Leu4072Gln
XM_006711810.3:c.12359T>A	XP_006711873.1:p.Leu4120Gln
XM_017002028.1:c.12431T>A	XP_016857517.1:p.Leu4144Gln
NM_001035.3:c.12398T>A MANE Select	NP_001026.2:p.Leu4133Gln