Canonical Allele Identifier: CA345412990

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784046G>A , CM000663.2:g.237784046G>A	GRCh38
NC_000001.10:g.237947346G>A , CM000663.1:g.237947346G>A	GRCh37
NC_000001.9:g.236013969G>A	NCBI36
NG_008799.2:g.746645G>A
NG_008799.3:g.746863G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12334G>A MANE Select	NP_001026.2:p.Asp4112Asn
ENST00000366574.7:c.12334G>A MANE Select	ENSP00000355533.2:p.Asp4112Asn
NM_001035.2:c.12334G>A	NP_001026.2:p.Asp4112Asn
ENST00000360064.7:c.12286G>A	ENSP00000353174.7:p.Asp4096Asn
ENST00000366574.6:c.12334G>A	ENSP00000355533.2:p.Asp4112Asn
ENST00000609119.1:n.3529G>A
ENST00000609119.2:c.*3426G>A	ENSP00000499659.2:n.*3426G>A
ENST00000659194.1:c.4511G>A
ENST00000659194.2:c.4511G>A
ENST00000659194.3:c.12322G>A	ENSP00000499653.3:p.Asp4108Asn
ENST00000660292.1:c.2387G>A
ENST00000660292.2:c.12355G>A	ENSP00000499787.2:p.Asp4119Asn
XM_006711802.2:c.12388G>A	XP_006711865.1:p.Asp4130Asn
XM_006711802.3:c.12388G>A	XP_006711865.1:p.Asp4130Asn
XM_006711803.2:c.12385G>A	XP_006711866.1:p.Asp4129Asn
XM_006711803.3:c.12385G>A	XP_006711866.1:p.Asp4129Asn
XM_006711804.2:c.12364G>A	XP_006711867.1:p.Asp4122Asn
XM_006711804.3:c.12364G>A	XP_006711867.1:p.Asp4122Asn
XM_006711805.2:c.12358G>A	XP_006711868.1:p.Asp4120Asn
XM_006711805.3:c.12358G>A	XP_006711868.1:p.Asp4120Asn
XM_006711806.2:c.12352G>A	XP_006711869.1:p.Asp4118Asn
XM_006711806.3:c.12352G>A	XP_006711869.1:p.Asp4118Asn
XM_006711807.2:c.12328G>A	XP_006711870.1:p.Asp4110Asn
XM_006711807.3:c.12328G>A	XP_006711870.1:p.Asp4110Asn
XM_006711808.2:c.12151G>A	XP_006711871.1:p.Asp4051Asn
XM_006711808.3:c.12151G>A	XP_006711871.1:p.Asp4051Asn
XM_006711810.2:c.12295G>A	XP_006711873.1:p.Asp4099Asn
XM_006711810.3:c.12295G>A	XP_006711873.1:p.Asp4099Asn
XM_017002028.1:c.12367G>A	XP_016857517.1:p.Asp4123Asn