Canonical Allele Identifier: CA16617108

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783701A>G , CM000663.2:g.237783701A>G	GRCh38
NC_000001.10:g.237947001A>G , CM000663.1:g.237947001A>G	GRCh37
NC_000001.9:g.236013624A>G	NCBI36
NG_008799.2:g.746300A>G
NG_008799.3:g.746518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3081A>G	ENSP00000499659.2:n.*3081A>G
ENST00000659194.3:c.11977A>G	ENSP00000499653.3:p.Lys3993Glu
ENST00000660292.2:c.12010A>G	ENSP00000499787.2:p.Lys4004Glu
ENST00000659194.2:c.4166A>G
ENST00000366574.7:c.11989A>G MANE Select	ENSP00000355533.2:p.Lys3997Glu
ENST00000659194.1:c.4166A>G
ENST00000660292.1:c.2042A>G
ENST00000360064.7:c.11941A>G	ENSP00000353174.7:p.Lys3981Glu
ENST00000366574.6:c.11989A>G	ENSP00000355533.2:p.Lys3997Glu
ENST00000609119.1:n.3184A>G
NM_001035.2:c.11989A>G	NP_001026.2:p.Lys3997Glu
XM_006711802.2:c.12043A>G	XP_006711865.1:p.Lys4015Glu
XM_006711803.2:c.12040A>G	XP_006711866.1:p.Lys4014Glu
XM_006711804.2:c.12019A>G	XP_006711867.1:p.Lys4007Glu
XM_006711805.2:c.12013A>G	XP_006711868.1:p.Lys4005Glu
XM_006711806.2:c.12007A>G	XP_006711869.1:p.Lys4003Glu
XM_006711807.2:c.11983A>G	XP_006711870.1:p.Lys3995Glu
XM_006711808.2:c.11806A>G	XP_006711871.1:p.Lys3936Glu
XM_006711810.2:c.11950A>G	XP_006711873.1:p.Lys3984Glu
XM_006711802.3:c.12043A>G	XP_006711865.1:p.Lys4015Glu
XM_006711803.3:c.12040A>G	XP_006711866.1:p.Lys4014Glu
XM_006711804.3:c.12019A>G	XP_006711867.1:p.Lys4007Glu
XM_006711805.3:c.12013A>G	XP_006711868.1:p.Lys4005Glu
XM_006711806.3:c.12007A>G	XP_006711869.1:p.Lys4003Glu
XM_006711807.3:c.11983A>G	XP_006711870.1:p.Lys3995Glu
XM_006711808.3:c.11806A>G	XP_006711871.1:p.Lys3936Glu
XM_006711810.3:c.11950A>G	XP_006711873.1:p.Lys3984Glu
XM_017002028.1:c.12022A>G	XP_016857517.1:p.Lys4008Glu
NM_001035.3:c.11989A>G MANE Select	NP_001026.2:p.Lys3997Glu