Canonical Allele Identifier: CA423821862

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237756386A>G , CM000663.2:g.237756386A>G	GRCh38
NC_000001.10:g.237919686A>G , CM000663.1:g.237919686A>G	GRCh37
NC_000001.9:g.235986309A>G	NCBI36
NG_008799.2:g.718985A>G
NG_008799.3:g.719203A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11244A>G MANE Select	NP_001026.2:p.Lys3748=
ENST00000366574.7:c.11244A>G MANE Select	ENSP00000355533.2:p.Lys3748=
NM_001035.2:c.11244A>G	NP_001026.2:p.Lys3748=
ENST00000360064.7:c.11196A>G	ENSP00000353174.7:p.Lys3732=
ENST00000366574.6:c.11244A>G	ENSP00000355533.2:p.Lys3748=
ENST00000609119.1:n.2439A>G
ENST00000609119.2:c.*2336A>G	ENSP00000499659.2:n.*2336A>G
ENST00000659194.1:c.3421A>G
ENST00000659194.2:c.3421A>G
ENST00000659194.3:c.11232A>G	ENSP00000499653.3:p.Lys3744=
ENST00000660292.1:c.1264A>G
ENST00000660292.2:c.11232A>G	ENSP00000499787.2:p.Lys3744=
XM_006711802.2:c.11298A>G	XP_006711865.1:p.Lys3766=
XM_006711802.3:c.11298A>G	XP_006711865.1:p.Lys3766=
XM_006711803.2:c.11295A>G	XP_006711866.1:p.Lys3765=
XM_006711803.3:c.11295A>G	XP_006711866.1:p.Lys3765=
XM_006711804.2:c.11274A>G	XP_006711867.1:p.Lys3758=
XM_006711804.3:c.11274A>G	XP_006711867.1:p.Lys3758=
XM_006711805.2:c.11268A>G	XP_006711868.1:p.Lys3756=
XM_006711805.3:c.11268A>G	XP_006711868.1:p.Lys3756=
XM_006711806.2:c.11262A>G	XP_006711869.1:p.Lys3754=
XM_006711806.3:c.11262A>G	XP_006711869.1:p.Lys3754=
XM_006711807.2:c.11238A>G	XP_006711870.1:p.Lys3746=
XM_006711807.3:c.11238A>G	XP_006711870.1:p.Lys3746=
XM_006711808.2:c.11061A>G	XP_006711871.1:p.Lys3687=
XM_006711808.3:c.11061A>G	XP_006711871.1:p.Lys3687=
XM_006711810.2:c.11205A>G	XP_006711873.1:p.Lys3735=
XM_006711810.3:c.11205A>G	XP_006711873.1:p.Lys3735=
XM_017002028.1:c.11277A>G	XP_016857517.1:p.Lys3759=