Canonical Allele Identifier: CA345426597

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819155C>A , CM000663.2:g.237819155C>A	GRCh38
NC_000001.10:g.237982455C>A , CM000663.1:g.237982455C>A	GRCh37
NC_000001.9:g.236049078C>A	NCBI36
NG_008799.2:g.781754C>A
NG_008799.3:g.781972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5645C>A	ENSP00000499659.2:n.*5645C>A
ENST00000659194.3:c.14535C>A	ENSP00000499653.3:p.Phe4845Leu
ENST00000660292.2:c.14574C>A	ENSP00000499787.2:p.Phe4858Leu
ENST00000659194.2:c.6724C>A
ENST00000366574.7:c.14553C>A MANE Select	ENSP00000355533.2:p.Phe4851Leu
ENST00000360064.7:c.14502C>A	ENSP00000353174.7:p.Phe4834Leu
ENST00000366574.6:c.14553C>A	ENSP00000355533.2:p.Phe4851Leu
ENST00000608590.5:n.1064C>A
NM_001035.2:c.14553C>A	NP_001026.2:p.Phe4851Leu
XM_006711802.2:c.14607C>A	XP_006711865.1:p.Phe4869Leu
XM_006711803.2:c.14604C>A	XP_006711866.1:p.Phe4868Leu
XM_006711804.2:c.14583C>A	XP_006711867.1:p.Phe4861Leu
XM_006711805.2:c.14577C>A	XP_006711868.1:p.Phe4859Leu
XM_006711806.2:c.14571C>A	XP_006711869.1:p.Phe4857Leu
XM_006711807.2:c.14547C>A	XP_006711870.1:p.Phe4849Leu
XM_006711808.2:c.14370C>A	XP_006711871.1:p.Phe4790Leu
XM_006711810.2:c.14514C>A	XP_006711873.1:p.Phe4838Leu
XM_006711802.3:c.14607C>A	XP_006711865.1:p.Phe4869Leu
XM_006711803.3:c.14604C>A	XP_006711866.1:p.Phe4868Leu
XM_006711804.3:c.14583C>A	XP_006711867.1:p.Phe4861Leu
XM_006711805.3:c.14577C>A	XP_006711868.1:p.Phe4859Leu
XM_006711806.3:c.14571C>A	XP_006711869.1:p.Phe4857Leu
XM_006711807.3:c.14547C>A	XP_006711870.1:p.Phe4849Leu
XM_006711808.3:c.14370C>A	XP_006711871.1:p.Phe4790Leu
XM_006711810.3:c.14514C>A	XP_006711873.1:p.Phe4838Leu
XM_017002028.1:c.14586C>A	XP_016857517.1:p.Phe4862Leu
NM_001035.3:c.14553C>A MANE Select	NP_001026.2:p.Phe4851Leu