Canonical Allele Identifier: CA345424398
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808991G>C , CM000663.2:g.237808991G>C GRCh38
NC_000001.10:g.237972291G>C , CM000663.1:g.237972291G>C GRCh37
NC_000001.9:g.236038914G>C NCBI36
NG_008799.2:g.771590G>C
NG_008799.3:g.771808G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5481G>C ENSP00000499659.2:n.*5481G>C
ENST00000659194.3:c.14371G>C ENSP00000499653.3:p.Glu4791Gln
ENST00000660292.2:c.14410G>C ENSP00000499787.2:p.Glu4804Gln
ENST00000659194.2:c.6560G>C
ENST00000366574.7:c.14389G>C MANE Select ENSP00000355533.2:p.Glu4797Gln
ENST00000360064.7:c.14338G>C ENSP00000353174.7:p.Glu4780Gln
ENST00000366574.6:c.14389G>C ENSP00000355533.2:p.Glu4797Gln
ENST00000608590.5:n.900G>C
NM_001035.2:c.14389G>C NP_001026.2:p.Glu4797Gln
XM_006711802.2:c.14443G>C XP_006711865.1:p.Glu4815Gln
XM_006711803.2:c.14440G>C XP_006711866.1:p.Glu4814Gln
XM_006711804.2:c.14419G>C XP_006711867.1:p.Glu4807Gln
XM_006711805.2:c.14413G>C XP_006711868.1:p.Glu4805Gln
XM_006711806.2:c.14407G>C XP_006711869.1:p.Glu4803Gln
XM_006711807.2:c.14383G>C XP_006711870.1:p.Glu4795Gln
XM_006711808.2:c.14206G>C XP_006711871.1:p.Glu4736Gln
XM_006711810.2:c.14350G>C XP_006711873.1:p.Glu4784Gln
XM_006711802.3:c.14443G>C XP_006711865.1:p.Glu4815Gln
XM_006711803.3:c.14440G>C XP_006711866.1:p.Glu4814Gln
XM_006711804.3:c.14419G>C XP_006711867.1:p.Glu4807Gln
XM_006711805.3:c.14413G>C XP_006711868.1:p.Glu4805Gln
XM_006711806.3:c.14407G>C XP_006711869.1:p.Glu4803Gln
XM_006711807.3:c.14383G>C XP_006711870.1:p.Glu4795Gln
XM_006711808.3:c.14206G>C XP_006711871.1:p.Glu4736Gln
XM_006711810.3:c.14350G>C XP_006711873.1:p.Glu4784Gln
XM_017002028.1:c.14422G>C XP_016857517.1:p.Glu4808Gln
NM_001035.3:c.14389G>C MANE Select NP_001026.2:p.Glu4797Gln