Canonical Allele Identifier: CA345396689

Gene: RYR2

Linked Data

• dbSNP Id: rs1681404318
• MyVariant Identifiers: chr1:g.237804248G>A (hg19) ; chr1:g.237640948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640948G>A , CM000663.2:g.237640948G>A	GRCh38
NC_000001.10:g.237804248G>A , CM000663.1:g.237804248G>A	GRCh37
NC_000001.9:g.235870871G>A	NCBI36
NG_008799.2:g.603547G>A
NG_008799.3:g.603765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7167G>A	ENSP00000499659.2:p.Met2389Ile
ENST00000659194.3:c.7167G>A	ENSP00000499653.3:p.Met2389Ile
ENST00000660292.2:c.7167G>A	ENSP00000499787.2:p.Met2389Ile
ENST00000366574.7:c.7167G>A MANE Select	ENSP00000355533.2:p.Met2389Ile
ENST00000360064.7:c.7119G>A	ENSP00000353174.7:p.Met2373Ile
ENST00000366574.6:c.7167G>A	ENSP00000355533.2:p.Met2389Ile
NM_001035.2:c.7167G>A	NP_001026.2:p.Met2389Ile
XM_006711802.2:c.7197G>A	XP_006711865.1:p.Met2399Ile
XM_006711803.2:c.7194G>A	XP_006711866.1:p.Met2398Ile
XM_006711804.2:c.7197G>A	XP_006711867.1:p.Met2399Ile
XM_006711805.2:c.7167G>A	XP_006711868.1:p.Met2389Ile
XM_006711806.2:c.7197G>A	XP_006711869.1:p.Met2399Ile
XM_006711807.2:c.7197G>A	XP_006711870.1:p.Met2399Ile
XM_006711808.2:c.7197G>A	XP_006711871.1:p.Met2399Ile
XM_006711809.2:c.7197G>A	XP_006711872.1:p.Met2399Ile
XM_006711810.2:c.7164G>A	XP_006711873.1:p.Met2388Ile
XR_949152.1:n.7478G>A
XM_006711802.3:c.7197G>A	XP_006711865.1:p.Met2399Ile
XM_006711803.3:c.7194G>A	XP_006711866.1:p.Met2398Ile
XM_006711804.3:c.7197G>A	XP_006711867.1:p.Met2399Ile
XM_006711805.3:c.7167G>A	XP_006711868.1:p.Met2389Ile
XM_006711806.3:c.7197G>A	XP_006711869.1:p.Met2399Ile
XM_006711807.3:c.7197G>A	XP_006711870.1:p.Met2399Ile
XM_006711808.3:c.7197G>A	XP_006711871.1:p.Met2399Ile
XM_006711810.3:c.7164G>A	XP_006711873.1:p.Met2388Ile
XM_017002028.1:c.7176G>A	XP_016857517.1:p.Met2392Ile
XR_002957299.1:n.7511G>A
XR_949152.2:n.7511G>A
NM_001035.3:c.7167G>A MANE Select	NP_001026.2:p.Met2389Ile