Canonical Allele Identifier: CA075469

Gene: RYR2

Linked Data

• dbSNP Id: rs892681643
• gnomAD v4: 1-237640917-A-G
• MyVariant Identifiers: chr1:g.237804217A>G (hg19) ; chr1:g.237640917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640917A>G , CM000663.2:g.237640917A>G	GRCh38
NC_000001.10:g.237804217A>G , CM000663.1:g.237804217A>G	GRCh37
NC_000001.9:g.235870840A>G	NCBI36
NG_008799.2:g.603516A>G
NG_008799.3:g.603734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7136A>G	ENSP00000499659.2:p.Asp2379Gly
ENST00000659194.3:c.7136A>G	ENSP00000499653.3:p.Asp2379Gly
ENST00000660292.2:c.7136A>G	ENSP00000499787.2:p.Asp2379Gly
ENST00000366574.7:c.7136A>G MANE Select	ENSP00000355533.2:p.Asp2379Gly
ENST00000360064.7:c.7088A>G	ENSP00000353174.7:p.Asp2363Gly
ENST00000366574.6:c.7136A>G	ENSP00000355533.2:p.Asp2379Gly
NM_001035.2:c.7136A>G	NP_001026.2:p.Asp2379Gly
XM_006711802.2:c.7166A>G	XP_006711865.1:p.Asp2389Gly
XM_006711803.2:c.7163A>G	XP_006711866.1:p.Asp2388Gly
XM_006711804.2:c.7166A>G	XP_006711867.1:p.Asp2389Gly
XM_006711805.2:c.7136A>G	XP_006711868.1:p.Asp2379Gly
XM_006711806.2:c.7166A>G	XP_006711869.1:p.Asp2389Gly
XM_006711807.2:c.7166A>G	XP_006711870.1:p.Asp2389Gly
XM_006711808.2:c.7166A>G	XP_006711871.1:p.Asp2389Gly
XM_006711809.2:c.7166A>G	XP_006711872.1:p.Asp2389Gly
XM_006711810.2:c.7133A>G	XP_006711873.1:p.Asp2378Gly
XR_949152.1:n.7447A>G
XM_006711802.3:c.7166A>G	XP_006711865.1:p.Asp2389Gly
XM_006711803.3:c.7163A>G	XP_006711866.1:p.Asp2388Gly
XM_006711804.3:c.7166A>G	XP_006711867.1:p.Asp2389Gly
XM_006711805.3:c.7136A>G	XP_006711868.1:p.Asp2379Gly
XM_006711806.3:c.7166A>G	XP_006711869.1:p.Asp2389Gly
XM_006711807.3:c.7166A>G	XP_006711870.1:p.Asp2389Gly
XM_006711808.3:c.7166A>G	XP_006711871.1:p.Asp2389Gly
XM_006711810.3:c.7133A>G	XP_006711873.1:p.Asp2378Gly
XM_017002028.1:c.7145A>G	XP_016857517.1:p.Asp2382Gly
XR_002957299.1:n.7480A>G
XR_949152.2:n.7480A>G
NM_001035.3:c.7136A>G MANE Select	NP_001026.2:p.Asp2379Gly