Canonical Allele Identifier: CA16603581

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237801901C>A , CM000663.2:g.237801901C>A	GRCh38
NC_000001.10:g.237965201C>A , CM000663.1:g.237965201C>A	GRCh37
NC_000001.9:g.236031824C>A	NCBI36
NG_008799.2:g.764500C>A
NG_008799.3:g.764718C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5228C>A	ENSP00000499659.2:n.*5228C>A
ENST00000659194.3:c.14118C>A	ENSP00000499653.3:p.Val4706=
ENST00000660292.2:c.14157C>A	ENSP00000499787.2:p.Val4719=
ENST00000659194.2:c.6307C>A
ENST00000366574.7:c.14136C>A MANE Select	ENSP00000355533.2:p.Val4712=
ENST00000360064.7:c.14085C>A	ENSP00000353174.7:p.Val4695=
ENST00000366574.6:c.14136C>A	ENSP00000355533.2:p.Val4712=
ENST00000466626.1:n.93C>A
ENST00000608590.5:n.647C>A
NM_001035.2:c.14136C>A	NP_001026.2:p.Val4712=
XM_006711802.2:c.14190C>A	XP_006711865.1:p.Val4730=
XM_006711803.2:c.14187C>A	XP_006711866.1:p.Val4729=
XM_006711804.2:c.14166C>A	XP_006711867.1:p.Val4722=
XM_006711805.2:c.14160C>A	XP_006711868.1:p.Val4720=
XM_006711806.2:c.14154C>A	XP_006711869.1:p.Val4718=
XM_006711807.2:c.14130C>A	XP_006711870.1:p.Val4710=
XM_006711808.2:c.13953C>A	XP_006711871.1:p.Val4651=
XM_006711810.2:c.14097C>A	XP_006711873.1:p.Val4699=
XM_006711802.3:c.14190C>A	XP_006711865.1:p.Val4730=
XM_006711803.3:c.14187C>A	XP_006711866.1:p.Val4729=
XM_006711804.3:c.14166C>A	XP_006711867.1:p.Val4722=
XM_006711805.3:c.14160C>A	XP_006711868.1:p.Val4720=
XM_006711806.3:c.14154C>A	XP_006711869.1:p.Val4718=
XM_006711807.3:c.14130C>A	XP_006711870.1:p.Val4710=
XM_006711808.3:c.13953C>A	XP_006711871.1:p.Val4651=
XM_006711810.3:c.14097C>A	XP_006711873.1:p.Val4699=
XM_017002028.1:c.14169C>A	XP_016857517.1:p.Val4723=
NM_001035.3:c.14136C>A MANE Select	NP_001026.2:p.Val4712=