Canonical Allele Identifier: CA345410692

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237791182T>G (hg19) ; chr1:g.237627882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627882T>G , CM000663.2:g.237627882T>G	GRCh38
NC_000001.10:g.237791182T>G , CM000663.1:g.237791182T>G	GRCh37
NC_000001.9:g.235857805T>G	NCBI36
NG_008799.2:g.590481T>G
NG_008799.3:g.590699T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6242T>G	ENSP00000499659.2:p.Val2081Gly
ENST00000659194.3:c.6242T>G	ENSP00000499653.3:p.Val2081Gly
ENST00000660292.2:c.6242T>G	ENSP00000499787.2:p.Val2081Gly
ENST00000366574.7:c.6242T>G MANE Select	ENSP00000355533.2:p.Val2081Gly
ENST00000360064.7:c.6194T>G	ENSP00000353174.7:p.Val2065Gly
ENST00000366574.6:c.6242T>G	ENSP00000355533.2:p.Val2081Gly
NM_001035.2:c.6242T>G	NP_001026.2:p.Val2081Gly
XM_006711802.2:c.6272T>G	XP_006711865.1:p.Val2091Gly
XM_006711803.2:c.6269T>G	XP_006711866.1:p.Val2090Gly
XM_006711804.2:c.6272T>G	XP_006711867.1:p.Val2091Gly
XM_006711805.2:c.6242T>G	XP_006711868.1:p.Val2081Gly
XM_006711806.2:c.6272T>G	XP_006711869.1:p.Val2091Gly
XM_006711807.2:c.6272T>G	XP_006711870.1:p.Val2091Gly
XM_006711808.2:c.6272T>G	XP_006711871.1:p.Val2091Gly
XM_006711809.2:c.6272T>G	XP_006711872.1:p.Val2091Gly
XM_006711810.2:c.6239T>G	XP_006711873.1:p.Val2080Gly
XR_949152.1:n.6553T>G
XM_006711802.3:c.6272T>G	XP_006711865.1:p.Val2091Gly
XM_006711803.3:c.6269T>G	XP_006711866.1:p.Val2090Gly
XM_006711804.3:c.6272T>G	XP_006711867.1:p.Val2091Gly
XM_006711805.3:c.6242T>G	XP_006711868.1:p.Val2081Gly
XM_006711806.3:c.6272T>G	XP_006711869.1:p.Val2091Gly
XM_006711807.3:c.6272T>G	XP_006711870.1:p.Val2091Gly
XM_006711808.3:c.6272T>G	XP_006711871.1:p.Val2091Gly
XM_006711810.3:c.6239T>G	XP_006711873.1:p.Val2080Gly
XM_017002028.1:c.6251T>G	XP_016857517.1:p.Val2084Gly
XR_002957299.1:n.6586T>G
XR_949152.2:n.6586T>G
NM_001035.3:c.6242T>G MANE Select	NP_001026.2:p.Val2081Gly