Canonical Allele Identifier: CA345423069

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806218G>A , CM000663.2:g.237806218G>A	GRCh38
NC_000001.10:g.237969518G>A , CM000663.1:g.237969518G>A	GRCh37
NC_000001.9:g.236036141G>A	NCBI36
NG_008799.2:g.768817G>A
NG_008799.3:g.769035G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14233G>A MANE Select	NP_001026.2:p.Asp4745Asn
ENST00000366574.7:c.14233G>A MANE Select	ENSP00000355533.2:p.Asp4745Asn
NM_001035.2:c.14233G>A	NP_001026.2:p.Asp4745Asn
ENST00000360064.7:c.14182G>A	ENSP00000353174.7:p.Asp4728Asn
ENST00000366574.6:c.14233G>A	ENSP00000355533.2:p.Asp4745Asn
ENST00000608590.5:n.744G>A
ENST00000609119.2:c.*5325G>A	ENSP00000499659.2:n.*5325G>A
ENST00000659194.2:c.6404G>A
ENST00000659194.3:c.14215G>A	ENSP00000499653.3:p.Asp4739Asn
ENST00000660292.2:c.14254G>A	ENSP00000499787.2:p.Asp4752Asn
XM_006711802.2:c.14287G>A	XP_006711865.1:p.Asp4763Asn
XM_006711802.3:c.14287G>A	XP_006711865.1:p.Asp4763Asn
XM_006711803.2:c.14284G>A	XP_006711866.1:p.Asp4762Asn
XM_006711803.3:c.14284G>A	XP_006711866.1:p.Asp4762Asn
XM_006711804.2:c.14263G>A	XP_006711867.1:p.Asp4755Asn
XM_006711804.3:c.14263G>A	XP_006711867.1:p.Asp4755Asn
XM_006711805.2:c.14257G>A	XP_006711868.1:p.Asp4753Asn
XM_006711805.3:c.14257G>A	XP_006711868.1:p.Asp4753Asn
XM_006711806.2:c.14251G>A	XP_006711869.1:p.Asp4751Asn
XM_006711806.3:c.14251G>A	XP_006711869.1:p.Asp4751Asn
XM_006711807.2:c.14227G>A	XP_006711870.1:p.Asp4743Asn
XM_006711807.3:c.14227G>A	XP_006711870.1:p.Asp4743Asn
XM_006711808.2:c.14050G>A	XP_006711871.1:p.Asp4684Asn
XM_006711808.3:c.14050G>A	XP_006711871.1:p.Asp4684Asn
XM_006711810.2:c.14194G>A	XP_006711873.1:p.Asp4732Asn
XM_006711810.3:c.14194G>A	XP_006711873.1:p.Asp4732Asn
XM_017002028.1:c.14266G>A	XP_016857517.1:p.Asp4756Asn