Canonical Allele Identifier: CA10610619

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237614348T>G , CM000663.2:g.237614348T>G	GRCh38
NC_000001.10:g.237777648T>G , CM000663.1:g.237777648T>G	GRCh37
NC_000001.9:g.235844271T>G	NCBI36
NG_008799.2:g.576947T>G
NG_008799.3:g.577165T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.5220T>G MANE Select	NP_001026.2:p.Pro1740=
ENST00000366574.7:c.5220T>G MANE Select	ENSP00000355533.2:p.Pro1740=
NM_001035.2:c.5220T>G	NP_001026.2:p.Pro1740=
ENST00000360064.7:c.5172T>G	ENSP00000353174.7:p.Pro1724=
ENST00000366574.6:c.5220T>G	ENSP00000355533.2:p.Pro1740=
ENST00000609119.2:c.5220T>G	ENSP00000499659.2:p.Pro1740=
ENST00000659194.3:c.5220T>G	ENSP00000499653.3:p.Pro1740=
ENST00000660292.2:c.5220T>G	ENSP00000499787.2:p.Pro1740=
XM_006711802.2:c.5250T>G	XP_006711865.1:p.Pro1750=
XM_006711802.3:c.5250T>G	XP_006711865.1:p.Pro1750=
XM_006711803.2:c.5247T>G	XP_006711866.1:p.Pro1749=
XM_006711803.3:c.5247T>G	XP_006711866.1:p.Pro1749=
XM_006711804.2:c.5250T>G	XP_006711867.1:p.Pro1750=
XM_006711804.3:c.5250T>G	XP_006711867.1:p.Pro1750=
XM_006711805.2:c.5220T>G	XP_006711868.1:p.Pro1740=
XM_006711805.3:c.5220T>G	XP_006711868.1:p.Pro1740=
XM_006711806.2:c.5250T>G	XP_006711869.1:p.Pro1750=
XM_006711806.3:c.5250T>G	XP_006711869.1:p.Pro1750=
XM_006711807.2:c.5250T>G	XP_006711870.1:p.Pro1750=
XM_006711807.3:c.5250T>G	XP_006711870.1:p.Pro1750=
XM_006711808.2:c.5250T>G	XP_006711871.1:p.Pro1750=
XM_006711808.3:c.5250T>G	XP_006711871.1:p.Pro1750=
XM_006711809.2:c.5250T>G	XP_006711872.1:p.Pro1750=
XM_006711810.2:c.5217T>G	XP_006711873.1:p.Pro1739=
XM_006711810.3:c.5217T>G	XP_006711873.1:p.Pro1739=
XM_017002028.1:c.5229T>G	XP_016857517.1:p.Pro1743=
XR_002957299.1:n.5564T>G
XR_949152.1:n.5531T>G
XR_949152.2:n.5564T>G