Canonical Allele Identifier: CA007731

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784571T>C , CM000663.2:g.237784571T>C	GRCh38
NC_000001.10:g.237947871T>C , CM000663.1:g.237947871T>C	GRCh37
NC_000001.9:g.236014494T>C	NCBI36
NG_008799.2:g.747170T>C
NG_008799.3:g.747388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3951T>C	ENSP00000499659.2:n.*3951T>C
ENST00000659194.3:c.12847T>C	ENSP00000499653.3:p.Tyr4283His
ENST00000660292.2:c.12880T>C	ENSP00000499787.2:p.Tyr4294His
ENST00000659194.2:c.5036T>C
ENST00000366574.7:c.12859T>C MANE Select	ENSP00000355533.2:p.Tyr4287His
ENST00000659194.1:c.5036T>C
ENST00000660292.1:c.2912T>C
ENST00000360064.7:c.12811T>C	ENSP00000353174.7:p.Tyr4271His
ENST00000366574.6:c.12859T>C	ENSP00000355533.2:p.Tyr4287His
ENST00000609119.1:n.4054T>C
NM_001035.2:c.12859T>C	NP_001026.2:p.Tyr4287His
XM_006711802.2:c.12913T>C	XP_006711865.1:p.Tyr4305His
XM_006711803.2:c.12910T>C	XP_006711866.1:p.Tyr4304His
XM_006711804.2:c.12889T>C	XP_006711867.1:p.Tyr4297His
XM_006711805.2:c.12883T>C	XP_006711868.1:p.Tyr4295His
XM_006711806.2:c.12877T>C	XP_006711869.1:p.Tyr4293His
XM_006711807.2:c.12853T>C	XP_006711870.1:p.Tyr4285His
XM_006711808.2:c.12676T>C	XP_006711871.1:p.Tyr4226His
XM_006711810.2:c.12820T>C	XP_006711873.1:p.Tyr4274His
XM_006711802.3:c.12913T>C	XP_006711865.1:p.Tyr4305His
XM_006711803.3:c.12910T>C	XP_006711866.1:p.Tyr4304His
XM_006711804.3:c.12889T>C	XP_006711867.1:p.Tyr4297His
XM_006711805.3:c.12883T>C	XP_006711868.1:p.Tyr4295His
XM_006711806.3:c.12877T>C	XP_006711869.1:p.Tyr4293His
XM_006711807.3:c.12853T>C	XP_006711870.1:p.Tyr4285His
XM_006711808.3:c.12676T>C	XP_006711871.1:p.Tyr4226His
XM_006711810.3:c.12820T>C	XP_006711873.1:p.Tyr4274His
XM_017002028.1:c.12892T>C	XP_016857517.1:p.Tyr4298His
NM_001035.3:c.12859T>C MANE Select	NP_001026.2:p.Tyr4287His