Canonical Allele Identifier: CA345429418

Gene: RYR2

Linked Data

• ClinVar Variation Id: 518728
• ClinVar RCV Id: RCV000618580
• dbSNP Id: rs1553341953
• MyVariant Identifiers: chr1:g.237991727A>C (hg19) ; chr1:g.237828427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828427A>C , CM000663.2:g.237828427A>C	GRCh38
NC_000001.10:g.237991727A>C , CM000663.1:g.237991727A>C	GRCh37
NC_000001.9:g.236058350A>C	NCBI36
NG_008799.2:g.791026A>C
NG_008799.3:g.791244A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5729A>C	ENSP00000499659.2:n.*5729A>C
ENST00000659194.3:c.14619A>C	ENSP00000499653.3:p.Gln4873His
ENST00000660292.2:c.14658A>C	ENSP00000499787.2:p.Gln4886His
ENST00000659194.2:c.6808A>C
ENST00000366574.7:c.14637A>C MANE Select	ENSP00000355533.2:p.Gln4879His
ENST00000360064.7:c.14586A>C	ENSP00000353174.7:p.Gln4862His
ENST00000366574.6:c.14637A>C	ENSP00000355533.2:p.Gln4879His
ENST00000608590.5:n.1148A>C
NM_001035.2:c.14637A>C	NP_001026.2:p.Gln4879His
XM_006711802.2:c.14691A>C	XP_006711865.1:p.Gln4897His
XM_006711803.2:c.14688A>C	XP_006711866.1:p.Gln4896His
XM_006711804.2:c.14667A>C	XP_006711867.1:p.Gln4889His
XM_006711805.2:c.14661A>C	XP_006711868.1:p.Gln4887His
XM_006711806.2:c.14655A>C	XP_006711869.1:p.Gln4885His
XM_006711807.2:c.14631A>C	XP_006711870.1:p.Gln4877His
XM_006711808.2:c.14454A>C	XP_006711871.1:p.Gln4818His
XM_006711810.2:c.14598A>C	XP_006711873.1:p.Gln4866His
XM_006711802.3:c.14691A>C	XP_006711865.1:p.Gln4897His
XM_006711803.3:c.14688A>C	XP_006711866.1:p.Gln4896His
XM_006711804.3:c.14667A>C	XP_006711867.1:p.Gln4889His
XM_006711805.3:c.14661A>C	XP_006711868.1:p.Gln4887His
XM_006711806.3:c.14655A>C	XP_006711869.1:p.Gln4885His
XM_006711807.3:c.14631A>C	XP_006711870.1:p.Gln4877His
XM_006711808.3:c.14454A>C	XP_006711871.1:p.Gln4818His
XM_006711810.3:c.14598A>C	XP_006711873.1:p.Gln4866His
XM_017002028.1:c.14670A>C	XP_016857517.1:p.Gln4890His
NM_001035.3:c.14637A>C MANE Select	NP_001026.2:p.Gln4879His