Canonical Allele Identifier: CA39828338

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784964A>G , CM000663.2:g.237784964A>G	GRCh38
NC_000001.10:g.237948264A>G , CM000663.1:g.237948264A>G	GRCh37
NC_000001.9:g.236014887A>G	NCBI36
NG_008799.2:g.747563A>G
NG_008799.3:g.747781A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13252A>G MANE Select	NP_001026.2:p.Lys4418Glu
ENST00000366574.7:c.13252A>G MANE Select	ENSP00000355533.2:p.Lys4418Glu
NM_001035.2:c.13252A>G	NP_001026.2:p.Lys4418Glu
ENST00000360064.7:c.13204A>G	ENSP00000353174.7:p.Lys4402Glu
ENST00000366574.6:c.13252A>G	ENSP00000355533.2:p.Lys4418Glu
ENST00000609119.1:n.4447A>G
ENST00000609119.2:c.*4344A>G	ENSP00000499659.2:n.*4344A>G
ENST00000659194.2:c.5429A>G
ENST00000659194.3:c.13240A>G	ENSP00000499653.3:p.Lys4414Glu
ENST00000660292.1:c.3305A>G
ENST00000660292.2:c.13273A>G	ENSP00000499787.2:p.Lys4425Glu
XM_006711802.2:c.13306A>G	XP_006711865.1:p.Lys4436Glu
XM_006711802.3:c.13306A>G	XP_006711865.1:p.Lys4436Glu
XM_006711803.2:c.13303A>G	XP_006711866.1:p.Lys4435Glu
XM_006711803.3:c.13303A>G	XP_006711866.1:p.Lys4435Glu
XM_006711804.2:c.13282A>G	XP_006711867.1:p.Lys4428Glu
XM_006711804.3:c.13282A>G	XP_006711867.1:p.Lys4428Glu
XM_006711805.2:c.13276A>G	XP_006711868.1:p.Lys4426Glu
XM_006711805.3:c.13276A>G	XP_006711868.1:p.Lys4426Glu
XM_006711806.2:c.13270A>G	XP_006711869.1:p.Lys4424Glu
XM_006711806.3:c.13270A>G	XP_006711869.1:p.Lys4424Glu
XM_006711807.2:c.13246A>G	XP_006711870.1:p.Lys4416Glu
XM_006711807.3:c.13246A>G	XP_006711870.1:p.Lys4416Glu
XM_006711808.2:c.13069A>G	XP_006711871.1:p.Lys4357Glu
XM_006711808.3:c.13069A>G	XP_006711871.1:p.Lys4357Glu
XM_006711810.2:c.13213A>G	XP_006711873.1:p.Lys4405Glu
XM_006711810.3:c.13213A>G	XP_006711873.1:p.Lys4405Glu
XM_017002028.1:c.13285A>G	XP_016857517.1:p.Lys4429Glu