Canonical Allele Identifier: CA345424356
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808982A>G , CM000663.2:g.237808982A>G GRCh38
NC_000001.10:g.237972282A>G , CM000663.1:g.237972282A>G GRCh37
NC_000001.9:g.236038905A>G NCBI36
NG_008799.2:g.771581A>G
NG_008799.3:g.771799A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5472A>G ENSP00000499659.2:n.*5472A>G
ENST00000659194.3:c.14362A>G ENSP00000499653.3:p.Asn4788Asp
ENST00000660292.2:c.14401A>G ENSP00000499787.2:p.Asn4801Asp
ENST00000659194.2:c.6551A>G
ENST00000366574.7:c.14380A>G MANE Select ENSP00000355533.2:p.Asn4794Asp
ENST00000360064.7:c.14329A>G ENSP00000353174.7:p.Asn4777Asp
ENST00000366574.6:c.14380A>G ENSP00000355533.2:p.Asn4794Asp
ENST00000608590.5:n.891A>G
NM_001035.2:c.14380A>G NP_001026.2:p.Asn4794Asp
XM_006711802.2:c.14434A>G XP_006711865.1:p.Asn4812Asp
XM_006711803.2:c.14431A>G XP_006711866.1:p.Asn4811Asp
XM_006711804.2:c.14410A>G XP_006711867.1:p.Asn4804Asp
XM_006711805.2:c.14404A>G XP_006711868.1:p.Asn4802Asp
XM_006711806.2:c.14398A>G XP_006711869.1:p.Asn4800Asp
XM_006711807.2:c.14374A>G XP_006711870.1:p.Asn4792Asp
XM_006711808.2:c.14197A>G XP_006711871.1:p.Asn4733Asp
XM_006711810.2:c.14341A>G XP_006711873.1:p.Asn4781Asp
XM_006711802.3:c.14434A>G XP_006711865.1:p.Asn4812Asp
XM_006711803.3:c.14431A>G XP_006711866.1:p.Asn4811Asp
XM_006711804.3:c.14410A>G XP_006711867.1:p.Asn4804Asp
XM_006711805.3:c.14404A>G XP_006711868.1:p.Asn4802Asp
XM_006711806.3:c.14398A>G XP_006711869.1:p.Asn4800Asp
XM_006711807.3:c.14374A>G XP_006711870.1:p.Asn4792Asp
XM_006711808.3:c.14197A>G XP_006711871.1:p.Asn4733Asp
XM_006711810.3:c.14341A>G XP_006711873.1:p.Asn4781Asp
XM_017002028.1:c.14413A>G XP_016857517.1:p.Asn4805Asp
NM_001035.3:c.14380A>G MANE Select NP_001026.2:p.Asn4794Asp