Canonical Allele Identifier: CA345396692
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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