Canonical Allele Identifier: CA345413131

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947409C>G (hg19) ; chr1:g.237784109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784109C>G , CM000663.2:g.237784109C>G	GRCh38
NC_000001.10:g.237947409C>G , CM000663.1:g.237947409C>G	GRCh37
NC_000001.9:g.236014032C>G	NCBI36
NG_008799.2:g.746708C>G
NG_008799.3:g.746926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3489C>G	ENSP00000499659.2:n.*3489C>G
ENST00000659194.3:c.12385C>G	ENSP00000499653.3:p.Leu4129Val
ENST00000660292.2:c.12418C>G	ENSP00000499787.2:p.Leu4140Val
ENST00000659194.2:c.4574C>G
ENST00000366574.7:c.12397C>G MANE Select	ENSP00000355533.2:p.Leu4133Val
ENST00000659194.1:c.4574C>G
ENST00000660292.1:c.2450C>G
ENST00000360064.7:c.12349C>G	ENSP00000353174.7:p.Leu4117Val
ENST00000366574.6:c.12397C>G	ENSP00000355533.2:p.Leu4133Val
ENST00000609119.1:n.3592C>G
NM_001035.2:c.12397C>G	NP_001026.2:p.Leu4133Val
XM_006711802.2:c.12451C>G	XP_006711865.1:p.Leu4151Val
XM_006711803.2:c.12448C>G	XP_006711866.1:p.Leu4150Val
XM_006711804.2:c.12427C>G	XP_006711867.1:p.Leu4143Val
XM_006711805.2:c.12421C>G	XP_006711868.1:p.Leu4141Val
XM_006711806.2:c.12415C>G	XP_006711869.1:p.Leu4139Val
XM_006711807.2:c.12391C>G	XP_006711870.1:p.Leu4131Val
XM_006711808.2:c.12214C>G	XP_006711871.1:p.Leu4072Val
XM_006711810.2:c.12358C>G	XP_006711873.1:p.Leu4120Val
XM_006711802.3:c.12451C>G	XP_006711865.1:p.Leu4151Val
XM_006711803.3:c.12448C>G	XP_006711866.1:p.Leu4150Val
XM_006711804.3:c.12427C>G	XP_006711867.1:p.Leu4143Val
XM_006711805.3:c.12421C>G	XP_006711868.1:p.Leu4141Val
XM_006711806.3:c.12415C>G	XP_006711869.1:p.Leu4139Val
XM_006711807.3:c.12391C>G	XP_006711870.1:p.Leu4131Val
XM_006711808.3:c.12214C>G	XP_006711871.1:p.Leu4072Val
XM_006711810.3:c.12358C>G	XP_006711873.1:p.Leu4120Val
XM_017002028.1:c.12430C>G	XP_016857517.1:p.Leu4144Val
NM_001035.3:c.12397C>G MANE Select	NP_001026.2:p.Leu4133Val