Canonical Allele Identifier: CA087854

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237700384A>G , CM000663.2:g.237700384A>G	GRCh38
NC_000001.10:g.237863684A>G , CM000663.1:g.237863684A>G	GRCh37
NC_000001.9:g.235930307A>G	NCBI36
NG_008799.2:g.662983A>G
NG_008799.3:g.663201A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9284A>G MANE Select	NP_001026.2:p.Asn3095Ser
ENST00000366574.7:c.9284A>G MANE Select	ENSP00000355533.2:p.Asn3095Ser
NM_001035.2:c.9284A>G	NP_001026.2:p.Asn3095Ser
ENST00000360064.7:c.9236A>G	ENSP00000353174.7:p.Asn3079Ser
ENST00000366574.6:c.9284A>G	ENSP00000355533.2:p.Asn3095Ser
ENST00000609119.1:n.422A>G
ENST00000609119.2:c.*319A>G	ENSP00000499659.2:n.*319A>G
ENST00000659194.1:c.1473A>G
ENST00000659194.2:c.1473A>G
ENST00000659194.3:c.9284A>G	ENSP00000499653.3:p.Asn3095Ser
ENST00000660292.2:c.9284A>G	ENSP00000499787.2:p.Asn3095Ser
XM_006711802.2:c.9314A>G	XP_006711865.1:p.Asn3105Ser
XM_006711802.3:c.9314A>G	XP_006711865.1:p.Asn3105Ser
XM_006711803.2:c.9311A>G	XP_006711866.1:p.Asn3104Ser
XM_006711803.3:c.9311A>G	XP_006711866.1:p.Asn3104Ser
XM_006711804.2:c.9314A>G	XP_006711867.1:p.Asn3105Ser
XM_006711804.3:c.9314A>G	XP_006711867.1:p.Asn3105Ser
XM_006711805.2:c.9284A>G	XP_006711868.1:p.Asn3095Ser
XM_006711805.3:c.9284A>G	XP_006711868.1:p.Asn3095Ser
XM_006711806.2:c.9314A>G	XP_006711869.1:p.Asn3105Ser
XM_006711806.3:c.9314A>G	XP_006711869.1:p.Asn3105Ser
XM_006711807.2:c.9314A>G	XP_006711870.1:p.Asn3105Ser
XM_006711807.3:c.9314A>G	XP_006711870.1:p.Asn3105Ser
XM_006711808.2:c.9077A>G	XP_006711871.1:p.Asn3026Ser
XM_006711808.3:c.9077A>G	XP_006711871.1:p.Asn3026Ser
XM_006711810.2:c.9281A>G	XP_006711873.1:p.Asn3094Ser
XM_006711810.3:c.9281A>G	XP_006711873.1:p.Asn3094Ser
XM_017002028.1:c.9293A>G	XP_016857517.1:p.Asn3098Ser
XR_949152.1:n.9545A>G
XR_949152.2:n.9578A>G