Canonical Allele Identifier: CA2697547748
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2774395
ClinVar RCV Id: RCV003533471

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237784284dup , CM000663.2:g.237784284dup GRCh38
NC_000001.10:g.237947584dup , CM000663.1:g.237947584dup GRCh37
NC_000001.9:g.236014207dup NCBI36
NG_008799.2:g.746883dup
NG_008799.3:g.747101dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*3664dup ENSP00000499659.2:n.*3664dup
ENST00000659194.3:c.12560dup ENSP00000499653.3:p.Asn4187LysfsTer9
ENST00000660292.2:c.12593dup ENSP00000499787.2:p.Asn4198LysfsTer9
ENST00000659194.2:c.4749dup
ENST00000366574.7:c.12572dup MANE Select ENSP00000355533.2:p.Asn4191LysfsTer9
ENST00000659194.1:c.4749dup
ENST00000660292.1:c.2625dup
ENST00000360064.7:c.12524dup ENSP00000353174.7:p.Asn4175LysfsTer9
ENST00000366574.6:c.12572dup ENSP00000355533.2:p.Asn4191LysfsTer9
ENST00000609119.1:n.3767dup
NM_001035.2:c.12572dup NP_001026.2:p.Asn4191LysfsTer9
XM_006711802.2:c.12626dup XP_006711865.1:p.Asn4209LysfsTer9
XM_006711803.2:c.12623dup XP_006711866.1:p.Asn4208LysfsTer9
XM_006711804.2:c.12602dup XP_006711867.1:p.Asn4201LysfsTer9
XM_006711805.2:c.12596dup XP_006711868.1:p.Asn4199LysfsTer9
XM_006711806.2:c.12590dup XP_006711869.1:p.Asn4197LysfsTer9
XM_006711807.2:c.12566dup XP_006711870.1:p.Asn4189LysfsTer9
XM_006711808.2:c.12389dup XP_006711871.1:p.Asn4130LysfsTer9
XM_006711810.2:c.12533dup XP_006711873.1:p.Asn4178LysfsTer9
XM_006711802.3:c.12626dup XP_006711865.1:p.Asn4209LysfsTer9
XM_006711803.3:c.12623dup XP_006711866.1:p.Asn4208LysfsTer9
XM_006711804.3:c.12602dup XP_006711867.1:p.Asn4201LysfsTer9
XM_006711805.3:c.12596dup XP_006711868.1:p.Asn4199LysfsTer9
XM_006711806.3:c.12590dup XP_006711869.1:p.Asn4197LysfsTer9
XM_006711807.3:c.12566dup XP_006711870.1:p.Asn4189LysfsTer9
XM_006711808.3:c.12389dup XP_006711871.1:p.Asn4130LysfsTer9
XM_006711810.3:c.12533dup XP_006711873.1:p.Asn4178LysfsTer9
XM_017002028.1:c.12605dup XP_016857517.1:p.Asn4202LysfsTer9
NM_001035.3:c.12572dup MANE Select NP_001026.2:p.Asn4191LysfsTer9