Canonical Allele Identifier: CA008235

Gene: RYR2

Linked Data

• ClinVar Variation Id: 43741
• ClinVar RCV Id: RCV000036695 ; RCV001177345 ; RCV002390144 ; RCV002513408 ; RCV003996257
• dbSNP Id: rs397516515
• ExAC: 1:237972317 A / G
• gnomAD v2: 1-237972317-A-G
• gnomAD v3: 1-237809017-A-G
• gnomAD v4: 1-237809017-A-G
• MyVariant Identifiers: chr1:g.237972317A>G (hg19) ; chr1:g.237809017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809017A>G , CM000663.2:g.237809017A>G	GRCh38
NC_000001.10:g.237972317A>G , CM000663.1:g.237972317A>G	GRCh37
NC_000001.9:g.236038940A>G	NCBI36
NG_008799.2:g.771616A>G
NG_008799.3:g.771834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5507A>G	ENSP00000499659.2:n.*5507A>G
ENST00000659194.3:c.14397A>G	ENSP00000499653.3:p.Lys4799=
ENST00000660292.2:c.14436A>G	ENSP00000499787.2:p.Lys4812=
ENST00000659194.2:c.6586A>G
ENST00000366574.7:c.14415A>G MANE Select	ENSP00000355533.2:p.Lys4805=
ENST00000360064.7:c.14364A>G	ENSP00000353174.7:p.Lys4788=
ENST00000366574.6:c.14415A>G	ENSP00000355533.2:p.Lys4805=
ENST00000608590.5:n.926A>G
NM_001035.2:c.14415A>G	NP_001026.2:p.Lys4805=
XM_006711802.2:c.14469A>G	XP_006711865.1:p.Lys4823=
XM_006711803.2:c.14466A>G	XP_006711866.1:p.Lys4822=
XM_006711804.2:c.14445A>G	XP_006711867.1:p.Lys4815=
XM_006711805.2:c.14439A>G	XP_006711868.1:p.Lys4813=
XM_006711806.2:c.14433A>G	XP_006711869.1:p.Lys4811=
XM_006711807.2:c.14409A>G	XP_006711870.1:p.Lys4803=
XM_006711808.2:c.14232A>G	XP_006711871.1:p.Lys4744=
XM_006711810.2:c.14376A>G	XP_006711873.1:p.Lys4792=
XM_006711802.3:c.14469A>G	XP_006711865.1:p.Lys4823=
XM_006711803.3:c.14466A>G	XP_006711866.1:p.Lys4822=
XM_006711804.3:c.14445A>G	XP_006711867.1:p.Lys4815=
XM_006711805.3:c.14439A>G	XP_006711868.1:p.Lys4813=
XM_006711806.3:c.14433A>G	XP_006711869.1:p.Lys4811=
XM_006711807.3:c.14409A>G	XP_006711870.1:p.Lys4803=
XM_006711808.3:c.14232A>G	XP_006711871.1:p.Lys4744=
XM_006711810.3:c.14376A>G	XP_006711873.1:p.Lys4792=
XM_017002028.1:c.14448A>G	XP_016857517.1:p.Lys4816=
NM_001035.3:c.14415A>G MANE Select	NP_001026.2:p.Lys4805=