Canonical Allele Identifier: CA423822297

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934114G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770814G>A , CM000663.2:g.237770814G>A	GRCh38
NC_000001.10:g.237934114G>A , CM000663.1:g.237934114G>A	GRCh37
NC_000001.9:g.236000737G>A	NCBI36
NG_008799.2:g.733413G>A
NG_008799.3:g.733631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2576G>A	ENSP00000499659.2:n.*2576G>A
ENST00000659194.3:c.11472G>A	ENSP00000499653.3:p.Lys3824=
ENST00000660292.2:c.11505G>A	ENSP00000499787.2:p.Lys3835=
ENST00000659194.2:c.3661G>A
ENST00000366574.7:c.11484G>A MANE Select	ENSP00000355533.2:p.Lys3828=
ENST00000659194.1:c.3661G>A
ENST00000660292.1:c.1537G>A
ENST00000360064.7:c.11436G>A	ENSP00000353174.7:p.Lys3812=
ENST00000366574.6:c.11484G>A	ENSP00000355533.2:p.Lys3828=
ENST00000609119.1:n.2679G>A
NM_001035.2:c.11484G>A	NP_001026.2:p.Lys3828=
XM_006711802.2:c.11538G>A	XP_006711865.1:p.Lys3846=
XM_006711803.2:c.11535G>A	XP_006711866.1:p.Lys3845=
XM_006711804.2:c.11514G>A	XP_006711867.1:p.Lys3838=
XM_006711805.2:c.11508G>A	XP_006711868.1:p.Lys3836=
XM_006711806.2:c.11502G>A	XP_006711869.1:p.Lys3834=
XM_006711807.2:c.11478G>A	XP_006711870.1:p.Lys3826=
XM_006711808.2:c.11301G>A	XP_006711871.1:p.Lys3767=
XM_006711810.2:c.11445G>A	XP_006711873.1:p.Lys3815=
XM_006711802.3:c.11538G>A	XP_006711865.1:p.Lys3846=
XM_006711803.3:c.11535G>A	XP_006711866.1:p.Lys3845=
XM_006711804.3:c.11514G>A	XP_006711867.1:p.Lys3838=
XM_006711805.3:c.11508G>A	XP_006711868.1:p.Lys3836=
XM_006711806.3:c.11502G>A	XP_006711869.1:p.Lys3834=
XM_006711807.3:c.11478G>A	XP_006711870.1:p.Lys3826=
XM_006711808.3:c.11301G>A	XP_006711871.1:p.Lys3767=
XM_006711810.3:c.11445G>A	XP_006711873.1:p.Lys3815=
XM_017002028.1:c.11517G>A	XP_016857517.1:p.Lys3839=
NM_001035.3:c.11484G>A MANE Select	NP_001026.2:p.Lys3828=