Canonical Allele Identifier: CA345413074

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947383G>T (hg19) ; chr1:g.237784083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784083G>T , CM000663.2:g.237784083G>T	GRCh38
NC_000001.10:g.237947383G>T , CM000663.1:g.237947383G>T	GRCh37
NC_000001.9:g.236014006G>T	NCBI36
NG_008799.2:g.746682G>T
NG_008799.3:g.746900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3463G>T	ENSP00000499659.2:n.*3463G>T
ENST00000659194.3:c.12359G>T	ENSP00000499653.3:p.Ser4120Ile
ENST00000660292.2:c.12392G>T	ENSP00000499787.2:p.Ser4131Ile
ENST00000659194.2:c.4548G>T
ENST00000366574.7:c.12371G>T MANE Select	ENSP00000355533.2:p.Ser4124Ile
ENST00000659194.1:c.4548G>T
ENST00000660292.1:c.2424G>T
ENST00000360064.7:c.12323G>T	ENSP00000353174.7:p.Ser4108Ile
ENST00000366574.6:c.12371G>T	ENSP00000355533.2:p.Ser4124Ile
ENST00000609119.1:n.3566G>T
NM_001035.2:c.12371G>T	NP_001026.2:p.Ser4124Ile
XM_006711802.2:c.12425G>T	XP_006711865.1:p.Ser4142Ile
XM_006711803.2:c.12422G>T	XP_006711866.1:p.Ser4141Ile
XM_006711804.2:c.12401G>T	XP_006711867.1:p.Ser4134Ile
XM_006711805.2:c.12395G>T	XP_006711868.1:p.Ser4132Ile
XM_006711806.2:c.12389G>T	XP_006711869.1:p.Ser4130Ile
XM_006711807.2:c.12365G>T	XP_006711870.1:p.Ser4122Ile
XM_006711808.2:c.12188G>T	XP_006711871.1:p.Ser4063Ile
XM_006711810.2:c.12332G>T	XP_006711873.1:p.Ser4111Ile
XM_006711802.3:c.12425G>T	XP_006711865.1:p.Ser4142Ile
XM_006711803.3:c.12422G>T	XP_006711866.1:p.Ser4141Ile
XM_006711804.3:c.12401G>T	XP_006711867.1:p.Ser4134Ile
XM_006711805.3:c.12395G>T	XP_006711868.1:p.Ser4132Ile
XM_006711806.3:c.12389G>T	XP_006711869.1:p.Ser4130Ile
XM_006711807.3:c.12365G>T	XP_006711870.1:p.Ser4122Ile
XM_006711808.3:c.12188G>T	XP_006711871.1:p.Ser4063Ile
XM_006711810.3:c.12332G>T	XP_006711873.1:p.Ser4111Ile
XM_017002028.1:c.12404G>T	XP_016857517.1:p.Ser4135Ile
NM_001035.3:c.12371G>T MANE Select	NP_001026.2:p.Ser4124Ile