Canonical Allele Identifier: CA345429384

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237991719C>G (hg19) ; chr1:g.237828419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828419C>G , CM000663.2:g.237828419C>G	GRCh38
NC_000001.10:g.237991719C>G , CM000663.1:g.237991719C>G	GRCh37
NC_000001.9:g.236058342C>G	NCBI36
NG_008799.2:g.791018C>G
NG_008799.3:g.791236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5721C>G	ENSP00000499659.2:n.*5721C>G
ENST00000659194.3:c.14611C>G	ENSP00000499653.3:p.Gln4871Glu
ENST00000660292.2:c.14650C>G	ENSP00000499787.2:p.Gln4884Glu
ENST00000659194.2:c.6800C>G
ENST00000366574.7:c.14629C>G MANE Select	ENSP00000355533.2:p.Gln4877Glu
ENST00000360064.7:c.14578C>G	ENSP00000353174.7:p.Gln4860Glu
ENST00000366574.6:c.14629C>G	ENSP00000355533.2:p.Gln4877Glu
ENST00000608590.5:n.1140C>G
NM_001035.2:c.14629C>G	NP_001026.2:p.Gln4877Glu
XM_006711802.2:c.14683C>G	XP_006711865.1:p.Gln4895Glu
XM_006711803.2:c.14680C>G	XP_006711866.1:p.Gln4894Glu
XM_006711804.2:c.14659C>G	XP_006711867.1:p.Gln4887Glu
XM_006711805.2:c.14653C>G	XP_006711868.1:p.Gln4885Glu
XM_006711806.2:c.14647C>G	XP_006711869.1:p.Gln4883Glu
XM_006711807.2:c.14623C>G	XP_006711870.1:p.Gln4875Glu
XM_006711808.2:c.14446C>G	XP_006711871.1:p.Gln4816Glu
XM_006711810.2:c.14590C>G	XP_006711873.1:p.Gln4864Glu
XM_006711802.3:c.14683C>G	XP_006711865.1:p.Gln4895Glu
XM_006711803.3:c.14680C>G	XP_006711866.1:p.Gln4894Glu
XM_006711804.3:c.14659C>G	XP_006711867.1:p.Gln4887Glu
XM_006711805.3:c.14653C>G	XP_006711868.1:p.Gln4885Glu
XM_006711806.3:c.14647C>G	XP_006711869.1:p.Gln4883Glu
XM_006711807.3:c.14623C>G	XP_006711870.1:p.Gln4875Glu
XM_006711808.3:c.14446C>G	XP_006711871.1:p.Gln4816Glu
XM_006711810.3:c.14590C>G	XP_006711873.1:p.Gln4864Glu
XM_017002028.1:c.14662C>G	XP_016857517.1:p.Gln4888Glu
NM_001035.3:c.14629C>G MANE Select	NP_001026.2:p.Gln4877Glu