Canonical Allele Identifier: CA423822296

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770811-A-G
• MyVariant Identifiers: chr1:g.237934111A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770811A>G , CM000663.2:g.237770811A>G	GRCh38
NC_000001.10:g.237934111A>G , CM000663.1:g.237934111A>G	GRCh37
NC_000001.9:g.236000734A>G	NCBI36
NG_008799.2:g.733410A>G
NG_008799.3:g.733628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2573A>G	ENSP00000499659.2:n.*2573A>G
ENST00000659194.3:c.11469A>G	ENSP00000499653.3:p.Glu3823=
ENST00000660292.2:c.11502A>G	ENSP00000499787.2:p.Glu3834=
ENST00000659194.2:c.3658A>G
ENST00000366574.7:c.11481A>G MANE Select	ENSP00000355533.2:p.Glu3827=
ENST00000659194.1:c.3658A>G
ENST00000660292.1:c.1534A>G
ENST00000360064.7:c.11433A>G	ENSP00000353174.7:p.Glu3811=
ENST00000366574.6:c.11481A>G	ENSP00000355533.2:p.Glu3827=
ENST00000609119.1:n.2676A>G
NM_001035.2:c.11481A>G	NP_001026.2:p.Glu3827=
XM_006711802.2:c.11535A>G	XP_006711865.1:p.Glu3845=
XM_006711803.2:c.11532A>G	XP_006711866.1:p.Glu3844=
XM_006711804.2:c.11511A>G	XP_006711867.1:p.Glu3837=
XM_006711805.2:c.11505A>G	XP_006711868.1:p.Glu3835=
XM_006711806.2:c.11499A>G	XP_006711869.1:p.Glu3833=
XM_006711807.2:c.11475A>G	XP_006711870.1:p.Glu3825=
XM_006711808.2:c.11298A>G	XP_006711871.1:p.Glu3766=
XM_006711810.2:c.11442A>G	XP_006711873.1:p.Glu3814=
XM_006711802.3:c.11535A>G	XP_006711865.1:p.Glu3845=
XM_006711803.3:c.11532A>G	XP_006711866.1:p.Glu3844=
XM_006711804.3:c.11511A>G	XP_006711867.1:p.Glu3837=
XM_006711805.3:c.11505A>G	XP_006711868.1:p.Glu3835=
XM_006711806.3:c.11499A>G	XP_006711869.1:p.Glu3833=
XM_006711807.3:c.11475A>G	XP_006711870.1:p.Glu3825=
XM_006711808.3:c.11298A>G	XP_006711871.1:p.Glu3766=
XM_006711810.3:c.11442A>G	XP_006711873.1:p.Glu3814=
XM_017002028.1:c.11514A>G	XP_016857517.1:p.Glu3838=
NM_001035.3:c.11481A>G MANE Select	NP_001026.2:p.Glu3827=