Canonical Allele Identifier: CA345424378
Gene: RYR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808987A>C , CM000663.2:g.237808987A>C GRCh38
NC_000001.10:g.237972287A>C , CM000663.1:g.237972287A>C GRCh37
NC_000001.9:g.236038910A>C NCBI36
NG_008799.2:g.771586A>C
NG_008799.3:g.771804A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5477A>C ENSP00000499659.2:n.*5477A>C
ENST00000659194.3:c.14367A>C ENSP00000499653.3:p.Lys4789Asn
ENST00000660292.2:c.14406A>C ENSP00000499787.2:p.Lys4802Asn
ENST00000659194.2:c.6556A>C
ENST00000366574.7:c.14385A>C MANE Select ENSP00000355533.2:p.Lys4795Asn
ENST00000360064.7:c.14334A>C ENSP00000353174.7:p.Lys4778Asn
ENST00000366574.6:c.14385A>C ENSP00000355533.2:p.Lys4795Asn
ENST00000608590.5:n.896A>C
NM_001035.2:c.14385A>C NP_001026.2:p.Lys4795Asn
XM_006711802.2:c.14439A>C XP_006711865.1:p.Lys4813Asn
XM_006711803.2:c.14436A>C XP_006711866.1:p.Lys4812Asn
XM_006711804.2:c.14415A>C XP_006711867.1:p.Lys4805Asn
XM_006711805.2:c.14409A>C XP_006711868.1:p.Lys4803Asn
XM_006711806.2:c.14403A>C XP_006711869.1:p.Lys4801Asn
XM_006711807.2:c.14379A>C XP_006711870.1:p.Lys4793Asn
XM_006711808.2:c.14202A>C XP_006711871.1:p.Lys4734Asn
XM_006711810.2:c.14346A>C XP_006711873.1:p.Lys4782Asn
XM_006711802.3:c.14439A>C XP_006711865.1:p.Lys4813Asn
XM_006711803.3:c.14436A>C XP_006711866.1:p.Lys4812Asn
XM_006711804.3:c.14415A>C XP_006711867.1:p.Lys4805Asn
XM_006711805.3:c.14409A>C XP_006711868.1:p.Lys4803Asn
XM_006711806.3:c.14403A>C XP_006711869.1:p.Lys4801Asn
XM_006711807.3:c.14379A>C XP_006711870.1:p.Lys4793Asn
XM_006711808.3:c.14202A>C XP_006711871.1:p.Lys4734Asn
XM_006711810.3:c.14346A>C XP_006711873.1:p.Lys4782Asn
XM_017002028.1:c.14418A>C XP_016857517.1:p.Lys4806Asn
NM_001035.3:c.14385A>C MANE Select NP_001026.2:p.Lys4795Asn