Canonical Allele Identifier: CA085311

Gene: RYR2

Linked Data

• ClinVar Variation Id: 518758
• ClinVar RCV Id: RCV000772659 ; RCV000621019 ; RCV001101827 ; RCV001101828 ; RCV004002654
• dbSNP Id: rs755585430
• ExAC: 1:237948232 G / A
• gnomAD v2: 1-237948232-G-A
• gnomAD v3: 1-237784932-G-A
• gnomAD v4: 1-237784932-G-A
• MyVariant Identifiers: chr1:g.237948232G>A (hg19) ; chr1:g.237784932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784932G>A , CM000663.2:g.237784932G>A	GRCh38
NC_000001.10:g.237948232G>A , CM000663.1:g.237948232G>A	GRCh37
NC_000001.9:g.236014855G>A	NCBI36
NG_008799.2:g.747531G>A
NG_008799.3:g.747749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4312G>A	ENSP00000499659.2:n.*4312G>A
ENST00000659194.3:c.13208G>A	ENSP00000499653.3:p.Ser4403Asn
ENST00000660292.2:c.13241G>A	ENSP00000499787.2:p.Ser4414Asn
ENST00000659194.2:c.5397G>A
ENST00000366574.7:c.13220G>A MANE Select	ENSP00000355533.2:p.Ser4407Asn
ENST00000659194.1:c.5397G>A
ENST00000660292.1:c.3273G>A
ENST00000360064.7:c.13172G>A	ENSP00000353174.7:p.Ser4391Asn
ENST00000366574.6:c.13220G>A	ENSP00000355533.2:p.Ser4407Asn
ENST00000609119.1:n.4415G>A
NM_001035.2:c.13220G>A	NP_001026.2:p.Ser4407Asn
XM_006711802.2:c.13274G>A	XP_006711865.1:p.Ser4425Asn
XM_006711803.2:c.13271G>A	XP_006711866.1:p.Ser4424Asn
XM_006711804.2:c.13250G>A	XP_006711867.1:p.Ser4417Asn
XM_006711805.2:c.13244G>A	XP_006711868.1:p.Ser4415Asn
XM_006711806.2:c.13238G>A	XP_006711869.1:p.Ser4413Asn
XM_006711807.2:c.13214G>A	XP_006711870.1:p.Ser4405Asn
XM_006711808.2:c.13037G>A	XP_006711871.1:p.Ser4346Asn
XM_006711810.2:c.13181G>A	XP_006711873.1:p.Ser4394Asn
XM_006711802.3:c.13274G>A	XP_006711865.1:p.Ser4425Asn
XM_006711803.3:c.13271G>A	XP_006711866.1:p.Ser4424Asn
XM_006711804.3:c.13250G>A	XP_006711867.1:p.Ser4417Asn
XM_006711805.3:c.13244G>A	XP_006711868.1:p.Ser4415Asn
XM_006711806.3:c.13238G>A	XP_006711869.1:p.Ser4413Asn
XM_006711807.3:c.13214G>A	XP_006711870.1:p.Ser4405Asn
XM_006711808.3:c.13037G>A	XP_006711871.1:p.Ser4346Asn
XM_006711810.3:c.13181G>A	XP_006711873.1:p.Ser4394Asn
XM_017002028.1:c.13253G>A	XP_016857517.1:p.Ser4418Asn
NM_001035.3:c.13220G>A MANE Select	NP_001026.2:p.Ser4407Asn