Canonical Allele Identifier: CA007268

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201318
• ClinVar RCV Id: RCV000182803 ; RCV003362716
• dbSNP Id: rs794728779
• MyVariant Identifiers: chr1:g.237946977A>C (hg19) ; chr1:g.237783677A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3057A>C	ENSP00000499659.2:n.*3057A>C
ENST00000659194.3:c.11953A>C	ENSP00000499653.3:p.Asn3985His
ENST00000660292.2:c.11986A>C	ENSP00000499787.2:p.Asn3996His
ENST00000659194.2:c.4142A>C
ENST00000366574.7:c.11965A>C MANE Select	ENSP00000355533.2:p.Asn3989His
ENST00000659194.1:c.4142A>C
ENST00000660292.1:c.2018A>C
ENST00000360064.7:c.11917A>C	ENSP00000353174.7:p.Asn3973His
ENST00000366574.6:c.11965A>C	ENSP00000355533.2:p.Asn3989His
ENST00000609119.1:n.3160A>C
NM_001035.2:c.11965A>C	NP_001026.2:p.Asn3989His
XM_006711802.2:c.12019A>C	XP_006711865.1:p.Asn4007His
XM_006711803.2:c.12016A>C	XP_006711866.1:p.Asn4006His
XM_006711804.2:c.11995A>C	XP_006711867.1:p.Asn3999His
XM_006711805.2:c.11989A>C	XP_006711868.1:p.Asn3997His
XM_006711806.2:c.11983A>C	XP_006711869.1:p.Asn3995His
XM_006711807.2:c.11959A>C	XP_006711870.1:p.Asn3987His
XM_006711808.2:c.11782A>C	XP_006711871.1:p.Asn3928His
XM_006711810.2:c.11926A>C	XP_006711873.1:p.Asn3976His
XM_006711802.3:c.12019A>C	XP_006711865.1:p.Asn4007His
XM_006711803.3:c.12016A>C	XP_006711866.1:p.Asn4006His
XM_006711804.3:c.11995A>C	XP_006711867.1:p.Asn3999His
XM_006711805.3:c.11989A>C	XP_006711868.1:p.Asn3997His
XM_006711806.3:c.11983A>C	XP_006711869.1:p.Asn3995His
XM_006711807.3:c.11959A>C	XP_006711870.1:p.Asn3987His
XM_006711808.3:c.11782A>C	XP_006711871.1:p.Asn3928His
XM_006711810.3:c.11926A>C	XP_006711873.1:p.Asn3976His
XM_017002028.1:c.11998A>C	XP_016857517.1:p.Asn4000His
NM_001035.3:c.11965A>C MANE Select	NP_001026.2:p.Asn3989His