Canonical Allele Identifier: CA424051733
Gene: RYR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.237972272A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808972A>C , CM000663.2:g.237808972A>C GRCh38
NC_000001.10:g.237972272A>C , CM000663.1:g.237972272A>C GRCh37
NC_000001.9:g.236038895A>C NCBI36
NG_008799.2:g.771571A>C
NG_008799.3:g.771789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*5462A>C ENSP00000499659.2:n.*5462A>C
ENST00000659194.3:c.14352A>C ENSP00000499653.3:p.Arg4784=
ENST00000660292.2:c.14391A>C ENSP00000499787.2:p.Arg4797=
ENST00000659194.2:c.6541A>C
ENST00000366574.7:c.14370A>C MANE Select ENSP00000355533.2:p.Arg4790=
ENST00000360064.7:c.14319A>C ENSP00000353174.7:p.Arg4773=
ENST00000366574.6:c.14370A>C ENSP00000355533.2:p.Arg4790=
ENST00000608590.5:n.881A>C
NM_001035.2:c.14370A>C NP_001026.2:p.Arg4790=
XM_006711802.2:c.14424A>C XP_006711865.1:p.Arg4808=
XM_006711803.2:c.14421A>C XP_006711866.1:p.Arg4807=
XM_006711804.2:c.14400A>C XP_006711867.1:p.Arg4800=
XM_006711805.2:c.14394A>C XP_006711868.1:p.Arg4798=
XM_006711806.2:c.14388A>C XP_006711869.1:p.Arg4796=
XM_006711807.2:c.14364A>C XP_006711870.1:p.Arg4788=
XM_006711808.2:c.14187A>C XP_006711871.1:p.Arg4729=
XM_006711810.2:c.14331A>C XP_006711873.1:p.Arg4777=
XM_006711802.3:c.14424A>C XP_006711865.1:p.Arg4808=
XM_006711803.3:c.14421A>C XP_006711866.1:p.Arg4807=
XM_006711804.3:c.14400A>C XP_006711867.1:p.Arg4800=
XM_006711805.3:c.14394A>C XP_006711868.1:p.Arg4798=
XM_006711806.3:c.14388A>C XP_006711869.1:p.Arg4796=
XM_006711807.3:c.14364A>C XP_006711870.1:p.Arg4788=
XM_006711808.3:c.14187A>C XP_006711871.1:p.Arg4729=
XM_006711810.3:c.14331A>C XP_006711873.1:p.Arg4777=
XM_017002028.1:c.14403A>C XP_016857517.1:p.Arg4801=
NM_001035.3:c.14370A>C MANE Select NP_001026.2:p.Arg4790=