Canonical Allele Identifier: CA1144229294
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237809017A= , CM000663.2:g.237809017A= GRCh38
NC_000001.10:g.237972317A= , CM000663.1:g.237972317A= GRCh37
NC_000001.9:g.236038940A= NCBI36
NG_008799.2:g.771616A=
NG_008799.3:g.771834A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5507A= ENSP00000499659.2:n.*5507A=
ENST00000659194.3:c.14397A= ENSP00000499653.3:p.Lys4799=
ENST00000660292.2:c.14436A= ENSP00000499787.2:p.Lys4812=
ENST00000659194.2:c.6586A=
ENST00000366574.7:c.14415A= MANE Select ENSP00000355533.2:p.Lys4805=
ENST00000360064.7:c.14364A= ENSP00000353174.7:p.Lys4788=
ENST00000366574.6:c.14415A= ENSP00000355533.2:p.Lys4805=
ENST00000608590.5:n.926A=
NM_001035.2:c.14415A= NP_001026.2:p.Lys4805=
XM_006711802.2:c.14469A= XP_006711865.1:p.Lys4823=
XM_006711803.2:c.14466A= XP_006711866.1:p.Lys4822=
XM_006711804.2:c.14445A= XP_006711867.1:p.Lys4815=
XM_006711805.2:c.14439A= XP_006711868.1:p.Lys4813=
XM_006711806.2:c.14433A= XP_006711869.1:p.Lys4811=
XM_006711807.2:c.14409A= XP_006711870.1:p.Lys4803=
XM_006711808.2:c.14232A= XP_006711871.1:p.Lys4744=
XM_006711810.2:c.14376A= XP_006711873.1:p.Lys4792=
XM_006711802.3:c.14469A= XP_006711865.1:p.Lys4823=
XM_006711803.3:c.14466A= XP_006711866.1:p.Lys4822=
XM_006711804.3:c.14445A= XP_006711867.1:p.Lys4815=
XM_006711805.3:c.14439A= XP_006711868.1:p.Lys4813=
XM_006711806.3:c.14433A= XP_006711869.1:p.Lys4811=
XM_006711807.3:c.14409A= XP_006711870.1:p.Lys4803=
XM_006711808.3:c.14232A= XP_006711871.1:p.Lys4744=
XM_006711810.3:c.14376A= XP_006711873.1:p.Lys4792=
XM_017002028.1:c.14448A= XP_016857517.1:p.Lys4816=
NM_001035.3:c.14415A= MANE Select NP_001026.2:p.Lys4805=