Canonical Allele Identifier: CA345418098

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793920T>G , CM000663.2:g.237793920T>G	GRCh38
NC_000001.10:g.237957220T>G , CM000663.1:g.237957220T>G	GRCh37
NC_000001.9:g.236023843T>G	NCBI36
NG_008799.2:g.756519T>G
NG_008799.3:g.756737T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13836T>G MANE Select	NP_001026.2:p.Phe4612Leu
ENST00000366574.7:c.13836T>G MANE Select	ENSP00000355533.2:p.Phe4612Leu
NM_001035.2:c.13836T>G	NP_001026.2:p.Phe4612Leu
ENST00000360064.7:c.13785T>G	ENSP00000353174.7:p.Phe4595Leu
ENST00000366574.6:c.13836T>G	ENSP00000355533.2:p.Phe4612Leu
ENST00000608590.5:n.347T>G
ENST00000609119.2:c.*4928T>G	ENSP00000499659.2:n.*4928T>G
ENST00000659194.2:c.6007T>G
ENST00000659194.3:c.13818T>G	ENSP00000499653.3:p.Phe4606Leu
ENST00000660292.1:c.3889T>G
ENST00000660292.2:c.13857T>G	ENSP00000499787.2:p.Phe4619Leu
XM_006711802.2:c.13890T>G	XP_006711865.1:p.Phe4630Leu
XM_006711802.3:c.13890T>G	XP_006711865.1:p.Phe4630Leu
XM_006711803.2:c.13887T>G	XP_006711866.1:p.Phe4629Leu
XM_006711803.3:c.13887T>G	XP_006711866.1:p.Phe4629Leu
XM_006711804.2:c.13866T>G	XP_006711867.1:p.Phe4622Leu
XM_006711804.3:c.13866T>G	XP_006711867.1:p.Phe4622Leu
XM_006711805.2:c.13860T>G	XP_006711868.1:p.Phe4620Leu
XM_006711805.3:c.13860T>G	XP_006711868.1:p.Phe4620Leu
XM_006711806.2:c.13854T>G	XP_006711869.1:p.Phe4618Leu
XM_006711806.3:c.13854T>G	XP_006711869.1:p.Phe4618Leu
XM_006711807.2:c.13830T>G	XP_006711870.1:p.Phe4610Leu
XM_006711807.3:c.13830T>G	XP_006711870.1:p.Phe4610Leu
XM_006711808.2:c.13653T>G	XP_006711871.1:p.Phe4551Leu
XM_006711808.3:c.13653T>G	XP_006711871.1:p.Phe4551Leu
XM_006711810.2:c.13797T>G	XP_006711873.1:p.Phe4599Leu
XM_006711810.3:c.13797T>G	XP_006711873.1:p.Phe4599Leu
XM_017002028.1:c.13869T>G	XP_016857517.1:p.Phe4623Leu