Canonical Allele Identifier: CA087630

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237666525C>T , CM000663.2:g.237666525C>T	GRCh38
NC_000001.10:g.237829825C>T , CM000663.1:g.237829825C>T	GRCh37
NC_000001.9:g.235896448C>T	NCBI36
NG_008799.2:g.629124C>T
NG_008799.3:g.629342C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8450C>T MANE Select	NP_001026.2:p.Ala2817Val
ENST00000366574.7:c.8450C>T MANE Select	ENSP00000355533.2:p.Ala2817Val
NM_001035.2:c.8450C>T	NP_001026.2:p.Ala2817Val
ENST00000360064.7:c.8402C>T	ENSP00000353174.7:p.Ala2801Val
ENST00000366574.6:c.8450C>T	ENSP00000355533.2:p.Ala2817Val
ENST00000609119.2:c.8450C>T	ENSP00000499659.2:p.Ala2817Val
ENST00000659194.1:c.639C>T
ENST00000659194.2:c.639C>T
ENST00000659194.3:c.8450C>T	ENSP00000499653.3:p.Ala2817Val
ENST00000660292.2:c.8450C>T	ENSP00000499787.2:p.Ala2817Val
XM_006711802.2:c.8480C>T	XP_006711865.1:p.Ala2827Val
XM_006711802.3:c.8480C>T	XP_006711865.1:p.Ala2827Val
XM_006711803.2:c.8477C>T	XP_006711866.1:p.Ala2826Val
XM_006711803.3:c.8477C>T	XP_006711866.1:p.Ala2826Val
XM_006711804.2:c.8480C>T	XP_006711867.1:p.Ala2827Val
XM_006711804.3:c.8480C>T	XP_006711867.1:p.Ala2827Val
XM_006711805.2:c.8450C>T	XP_006711868.1:p.Ala2817Val
XM_006711805.3:c.8450C>T	XP_006711868.1:p.Ala2817Val
XM_006711806.2:c.8480C>T	XP_006711869.1:p.Ala2827Val
XM_006711806.3:c.8480C>T	XP_006711869.1:p.Ala2827Val
XM_006711807.2:c.8480C>T	XP_006711870.1:p.Ala2827Val
XM_006711807.3:c.8480C>T	XP_006711870.1:p.Ala2827Val
XM_006711808.2:c.8480C>T	XP_006711871.1:p.Ala2827Val
XM_006711808.3:c.8480C>T	XP_006711871.1:p.Ala2827Val
XM_006711810.2:c.8447C>T	XP_006711873.1:p.Ala2816Val
XM_006711810.3:c.8447C>T	XP_006711873.1:p.Ala2816Val
XM_017002028.1:c.8459C>T	XP_016857517.1:p.Ala2820Val
XR_002957299.1:n.8861C>T
XR_949152.1:n.8761C>T
XR_949152.2:n.8794C>T