Canonical Allele Identifier: CA345424535
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237809019G>C , CM000663.2:g.237809019G>C GRCh38
NC_000001.10:g.237972319G>C , CM000663.1:g.237972319G>C GRCh37
NC_000001.9:g.236038942G>C NCBI36
NG_008799.2:g.771618G>C
NG_008799.3:g.771836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5509G>C ENSP00000499659.2:n.*5509G>C
ENST00000659194.3:c.14399G>C ENSP00000499653.3:p.Cys4800Ser
ENST00000660292.2:c.14438G>C ENSP00000499787.2:p.Cys4813Ser
ENST00000659194.2:c.6588G>C
ENST00000366574.7:c.14417G>C MANE Select ENSP00000355533.2:p.Cys4806Ser
ENST00000360064.7:c.14366G>C ENSP00000353174.7:p.Cys4789Ser
ENST00000366574.6:c.14417G>C ENSP00000355533.2:p.Cys4806Ser
ENST00000608590.5:n.928G>C
NM_001035.2:c.14417G>C NP_001026.2:p.Cys4806Ser
XM_006711802.2:c.14471G>C XP_006711865.1:p.Cys4824Ser
XM_006711803.2:c.14468G>C XP_006711866.1:p.Cys4823Ser
XM_006711804.2:c.14447G>C XP_006711867.1:p.Cys4816Ser
XM_006711805.2:c.14441G>C XP_006711868.1:p.Cys4814Ser
XM_006711806.2:c.14435G>C XP_006711869.1:p.Cys4812Ser
XM_006711807.2:c.14411G>C XP_006711870.1:p.Cys4804Ser
XM_006711808.2:c.14234G>C XP_006711871.1:p.Cys4745Ser
XM_006711810.2:c.14378G>C XP_006711873.1:p.Cys4793Ser
XM_006711802.3:c.14471G>C XP_006711865.1:p.Cys4824Ser
XM_006711803.3:c.14468G>C XP_006711866.1:p.Cys4823Ser
XM_006711804.3:c.14447G>C XP_006711867.1:p.Cys4816Ser
XM_006711805.3:c.14441G>C XP_006711868.1:p.Cys4814Ser
XM_006711806.3:c.14435G>C XP_006711869.1:p.Cys4812Ser
XM_006711807.3:c.14411G>C XP_006711870.1:p.Cys4804Ser
XM_006711808.3:c.14234G>C XP_006711871.1:p.Cys4745Ser
XM_006711810.3:c.14378G>C XP_006711873.1:p.Cys4793Ser
XM_017002028.1:c.14450G>C XP_016857517.1:p.Cys4817Ser
NM_001035.3:c.14417G>C MANE Select NP_001026.2:p.Cys4806Ser