Canonical Allele Identifier: CA087982

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237708883A>G , CM000663.2:g.237708883A>G	GRCh38
NC_000001.10:g.237872183A>G , CM000663.1:g.237872183A>G	GRCh37
NC_000001.9:g.235938806A>G	NCBI36
NG_008799.2:g.671482A>G
NG_008799.3:g.671700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*962A>G	ENSP00000499659.2:n.*962A>G
ENST00000659194.3:c.9927A>G	ENSP00000499653.3:p.Lys3309=
ENST00000660292.2:c.9927A>G	ENSP00000499787.2:p.Lys3309=
ENST00000659194.2:c.2116A>G
ENST00000366574.7:c.9927A>G MANE Select	ENSP00000355533.2:p.Lys3309=
ENST00000659194.1:c.2116A>G
ENST00000360064.7:c.9879A>G	ENSP00000353174.7:p.Lys3293=
ENST00000366574.6:c.9927A>G	ENSP00000355533.2:p.Lys3309=
ENST00000609119.1:n.1065A>G
NM_001035.2:c.9927A>G	NP_001026.2:p.Lys3309=
XM_006711802.2:c.9957A>G	XP_006711865.1:p.Lys3319=
XM_006711803.2:c.9954A>G	XP_006711866.1:p.Lys3318=
XM_006711804.2:c.9957A>G	XP_006711867.1:p.Lys3319=
XM_006711805.2:c.9927A>G	XP_006711868.1:p.Lys3309=
XM_006711806.2:c.9957A>G	XP_006711869.1:p.Lys3319=
XM_006711807.2:c.9957A>G	XP_006711870.1:p.Lys3319=
XM_006711808.2:c.9720A>G	XP_006711871.1:p.Lys3240=
XM_006711810.2:c.9924A>G	XP_006711873.1:p.Lys3308=
XM_006711802.3:c.9957A>G	XP_006711865.1:p.Lys3319=
XM_006711803.3:c.9954A>G	XP_006711866.1:p.Lys3318=
XM_006711804.3:c.9957A>G	XP_006711867.1:p.Lys3319=
XM_006711805.3:c.9927A>G	XP_006711868.1:p.Lys3309=
XM_006711806.3:c.9957A>G	XP_006711869.1:p.Lys3319=
XM_006711807.3:c.9957A>G	XP_006711870.1:p.Lys3319=
XM_006711808.3:c.9720A>G	XP_006711871.1:p.Lys3240=
XM_006711810.3:c.9924A>G	XP_006711873.1:p.Lys3308=
XM_017002028.1:c.9936A>G	XP_016857517.1:p.Lys3312=
NM_001035.3:c.9927A>G MANE Select	NP_001026.2:p.Lys3309=