Canonical Allele Identifier: CA087436

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237649988G>A , CM000663.2:g.237649988G>A	GRCh38
NC_000001.10:g.237813288G>A , CM000663.1:g.237813288G>A	GRCh37
NC_000001.9:g.235879911G>A	NCBI36
NG_008799.2:g.612587G>A
NG_008799.3:g.612805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7624G>A	ENSP00000499659.2:p.Ala2542Thr
ENST00000659194.3:c.7624G>A	ENSP00000499653.3:p.Ala2542Thr
ENST00000660292.2:c.7624G>A	ENSP00000499787.2:p.Ala2542Thr
ENST00000366574.7:c.7624G>A MANE Select	ENSP00000355533.2:p.Ala2542Thr
ENST00000360064.7:c.7576G>A	ENSP00000353174.7:p.Ala2526Thr
ENST00000366574.6:c.7624G>A	ENSP00000355533.2:p.Ala2542Thr
NM_001035.2:c.7624G>A	NP_001026.2:p.Ala2542Thr
XM_006711802.2:c.7654G>A	XP_006711865.1:p.Ala2552Thr
XM_006711803.2:c.7651G>A	XP_006711866.1:p.Ala2551Thr
XM_006711804.2:c.7654G>A	XP_006711867.1:p.Ala2552Thr
XM_006711805.2:c.7624G>A	XP_006711868.1:p.Ala2542Thr
XM_006711806.2:c.7654G>A	XP_006711869.1:p.Ala2552Thr
XM_006711807.2:c.7654G>A	XP_006711870.1:p.Ala2552Thr
XM_006711808.2:c.7654G>A	XP_006711871.1:p.Ala2552Thr
XM_006711809.2:c.7654G>A	XP_006711872.1:p.Ala2552Thr
XM_006711810.2:c.7621G>A	XP_006711873.1:p.Ala2541Thr
XR_949152.1:n.7935G>A
XM_006711802.3:c.7654G>A	XP_006711865.1:p.Ala2552Thr
XM_006711803.3:c.7651G>A	XP_006711866.1:p.Ala2551Thr
XM_006711804.3:c.7654G>A	XP_006711867.1:p.Ala2552Thr
XM_006711805.3:c.7624G>A	XP_006711868.1:p.Ala2542Thr
XM_006711806.3:c.7654G>A	XP_006711869.1:p.Ala2552Thr
XM_006711807.3:c.7654G>A	XP_006711870.1:p.Ala2552Thr
XM_006711808.3:c.7654G>A	XP_006711871.1:p.Ala2552Thr
XM_006711810.3:c.7621G>A	XP_006711873.1:p.Ala2541Thr
XM_017002028.1:c.7633G>A	XP_016857517.1:p.Ala2545Thr
XR_002957299.1:n.7968G>A
XR_949152.2:n.7968G>A
NM_001035.3:c.7624G>A MANE Select	NP_001026.2:p.Ala2542Thr