Canonical Allele Identifier: CA345412895

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947301A>C (hg19) ; chr1:g.237784001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784001A>C , CM000663.2:g.237784001A>C	GRCh38
NC_000001.10:g.237947301A>C , CM000663.1:g.237947301A>C	GRCh37
NC_000001.9:g.236013924A>C	NCBI36
NG_008799.2:g.746600A>C
NG_008799.3:g.746818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3381A>C	ENSP00000499659.2:n.*3381A>C
ENST00000659194.3:c.12277A>C	ENSP00000499653.3:p.Asn4093His
ENST00000660292.2:c.12310A>C	ENSP00000499787.2:p.Asn4104His
ENST00000659194.2:c.4466A>C
ENST00000366574.7:c.12289A>C MANE Select	ENSP00000355533.2:p.Asn4097His
ENST00000659194.1:c.4466A>C
ENST00000660292.1:c.2342A>C
ENST00000360064.7:c.12241A>C	ENSP00000353174.7:p.Asn4081His
ENST00000366574.6:c.12289A>C	ENSP00000355533.2:p.Asn4097His
ENST00000609119.1:n.3484A>C
NM_001035.2:c.12289A>C	NP_001026.2:p.Asn4097His
XM_006711802.2:c.12343A>C	XP_006711865.1:p.Asn4115His
XM_006711803.2:c.12340A>C	XP_006711866.1:p.Asn4114His
XM_006711804.2:c.12319A>C	XP_006711867.1:p.Asn4107His
XM_006711805.2:c.12313A>C	XP_006711868.1:p.Asn4105His
XM_006711806.2:c.12307A>C	XP_006711869.1:p.Asn4103His
XM_006711807.2:c.12283A>C	XP_006711870.1:p.Asn4095His
XM_006711808.2:c.12106A>C	XP_006711871.1:p.Asn4036His
XM_006711810.2:c.12250A>C	XP_006711873.1:p.Asn4084His
XM_006711802.3:c.12343A>C	XP_006711865.1:p.Asn4115His
XM_006711803.3:c.12340A>C	XP_006711866.1:p.Asn4114His
XM_006711804.3:c.12319A>C	XP_006711867.1:p.Asn4107His
XM_006711805.3:c.12313A>C	XP_006711868.1:p.Asn4105His
XM_006711806.3:c.12307A>C	XP_006711869.1:p.Asn4103His
XM_006711807.3:c.12283A>C	XP_006711870.1:p.Asn4095His
XM_006711808.3:c.12106A>C	XP_006711871.1:p.Asn4036His
XM_006711810.3:c.12250A>C	XP_006711873.1:p.Asn4084His
XM_017002028.1:c.12322A>C	XP_016857517.1:p.Asn4108His
NM_001035.3:c.12289A>C MANE Select	NP_001026.2:p.Asn4097His