Canonical Allele Identifier: CA423810399

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1529040
• ClinVar RCV Id: RCV002079898
• dbSNP Id: rs2150028988
• gnomAD v4: 1-237417106-A-G
• MyVariant Identifiers: chr1:g.237580406A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417106A>G , CM000663.2:g.237417106A>G	GRCh38
NC_000001.10:g.237580406A>G , CM000663.1:g.237580406A>G	GRCh37
NC_000001.9:g.235647029A>G	NCBI36
NG_008799.2:g.379705A>G
NG_008799.3:g.379923A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.831A>G	ENSP00000499659.2:p.Leu277=
ENST00000659194.3:c.831A>G	ENSP00000499653.3:p.Leu277=
ENST00000660292.2:c.831A>G	ENSP00000499787.2:p.Leu277=
ENST00000366574.7:c.831A>G MANE Select	ENSP00000355533.2:p.Leu277=
ENST00000360064.7:c.783A>G	ENSP00000353174.7:p.Leu261=
ENST00000366574.6:c.831A>G	ENSP00000355533.2:p.Leu277=
NM_001035.2:c.831A>G	NP_001026.2:p.Leu277=
XM_006711802.2:c.831A>G	XP_006711865.1:p.Leu277=
XM_006711803.2:c.831A>G	XP_006711866.1:p.Leu277=
XM_006711804.2:c.831A>G	XP_006711867.1:p.Leu277=
XM_006711805.2:c.831A>G	XP_006711868.1:p.Leu277=
XM_006711806.2:c.831A>G	XP_006711869.1:p.Leu277=
XM_006711807.2:c.831A>G	XP_006711870.1:p.Leu277=
XM_006711808.2:c.831A>G	XP_006711871.1:p.Leu277=
XM_006711809.2:c.831A>G	XP_006711872.1:p.Leu277=
XM_006711810.2:c.831A>G	XP_006711873.1:p.Leu277=
XR_949152.1:n.1112A>G
XM_006711802.3:c.831A>G	XP_006711865.1:p.Leu277=
XM_006711803.3:c.831A>G	XP_006711866.1:p.Leu277=
XM_006711804.3:c.831A>G	XP_006711867.1:p.Leu277=
XM_006711805.3:c.831A>G	XP_006711868.1:p.Leu277=
XM_006711806.3:c.831A>G	XP_006711869.1:p.Leu277=
XM_006711807.3:c.831A>G	XP_006711870.1:p.Leu277=
XM_006711808.3:c.831A>G	XP_006711871.1:p.Leu277=
XM_006711810.3:c.831A>G	XP_006711873.1:p.Leu277=
XM_017002028.1:c.810A>G	XP_016857517.1:p.Leu270=
XR_002957299.1:n.1145A>G
XR_949152.2:n.1145A>G
NM_001035.3:c.831A>G MANE Select	NP_001026.2:p.Leu277=