Canonical Allele Identifier: CA007278

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201319
• ClinVar RCV Id: RCV000182804 ; RCV002515334
• dbSNP Id: rs794728779
• MyVariant Identifiers: chr1:g.237946977A>G (hg19) ; chr1:g.237783677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783677A>G , CM000663.2:g.237783677A>G	GRCh38
NC_000001.10:g.237946977A>G , CM000663.1:g.237946977A>G	GRCh37
NC_000001.9:g.236013600A>G	NCBI36
NG_008799.2:g.746276A>G
NG_008799.3:g.746494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3057A>G	ENSP00000499659.2:n.*3057A>G
ENST00000659194.3:c.11953A>G	ENSP00000499653.3:p.Asn3985Asp
ENST00000660292.2:c.11986A>G	ENSP00000499787.2:p.Asn3996Asp
ENST00000659194.2:c.4142A>G
ENST00000366574.7:c.11965A>G MANE Select	ENSP00000355533.2:p.Asn3989Asp
ENST00000659194.1:c.4142A>G
ENST00000660292.1:c.2018A>G
ENST00000360064.7:c.11917A>G	ENSP00000353174.7:p.Asn3973Asp
ENST00000366574.6:c.11965A>G	ENSP00000355533.2:p.Asn3989Asp
ENST00000609119.1:n.3160A>G
NM_001035.2:c.11965A>G	NP_001026.2:p.Asn3989Asp
XM_006711802.2:c.12019A>G	XP_006711865.1:p.Asn4007Asp
XM_006711803.2:c.12016A>G	XP_006711866.1:p.Asn4006Asp
XM_006711804.2:c.11995A>G	XP_006711867.1:p.Asn3999Asp
XM_006711805.2:c.11989A>G	XP_006711868.1:p.Asn3997Asp
XM_006711806.2:c.11983A>G	XP_006711869.1:p.Asn3995Asp
XM_006711807.2:c.11959A>G	XP_006711870.1:p.Asn3987Asp
XM_006711808.2:c.11782A>G	XP_006711871.1:p.Asn3928Asp
XM_006711810.2:c.11926A>G	XP_006711873.1:p.Asn3976Asp
XM_006711802.3:c.12019A>G	XP_006711865.1:p.Asn4007Asp
XM_006711803.3:c.12016A>G	XP_006711866.1:p.Asn4006Asp
XM_006711804.3:c.11995A>G	XP_006711867.1:p.Asn3999Asp
XM_006711805.3:c.11989A>G	XP_006711868.1:p.Asn3997Asp
XM_006711806.3:c.11983A>G	XP_006711869.1:p.Asn3995Asp
XM_006711807.3:c.11959A>G	XP_006711870.1:p.Asn3987Asp
XM_006711808.3:c.11782A>G	XP_006711871.1:p.Asn3928Asp
XM_006711810.3:c.11926A>G	XP_006711873.1:p.Asn3976Asp
XM_017002028.1:c.11998A>G	XP_016857517.1:p.Asn4000Asp
NM_001035.3:c.11965A>G MANE Select	NP_001026.2:p.Asn3989Asp