Canonical Allele Identifier: CA424051884

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2765396
• ClinVar RCV Id: RCV003526481
• gnomAD v4: 1-237828424-A-G
• MyVariant Identifiers: chr1:g.237991724A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828424A>G , CM000663.2:g.237828424A>G	GRCh38
NC_000001.10:g.237991724A>G , CM000663.1:g.237991724A>G	GRCh37
NC_000001.9:g.236058347A>G	NCBI36
NG_008799.2:g.791023A>G
NG_008799.3:g.791241A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5726A>G	ENSP00000499659.2:n.*5726A>G
ENST00000659194.3:c.14616A>G	ENSP00000499653.3:p.Glu4872=
ENST00000660292.2:c.14655A>G	ENSP00000499787.2:p.Glu4885=
ENST00000659194.2:c.6805A>G
ENST00000366574.7:c.14634A>G MANE Select	ENSP00000355533.2:p.Glu4878=
ENST00000360064.7:c.14583A>G	ENSP00000353174.7:p.Glu4861=
ENST00000366574.6:c.14634A>G	ENSP00000355533.2:p.Glu4878=
ENST00000608590.5:n.1145A>G
NM_001035.2:c.14634A>G	NP_001026.2:p.Glu4878=
XM_006711802.2:c.14688A>G	XP_006711865.1:p.Glu4896=
XM_006711803.2:c.14685A>G	XP_006711866.1:p.Glu4895=
XM_006711804.2:c.14664A>G	XP_006711867.1:p.Glu4888=
XM_006711805.2:c.14658A>G	XP_006711868.1:p.Glu4886=
XM_006711806.2:c.14652A>G	XP_006711869.1:p.Glu4884=
XM_006711807.2:c.14628A>G	XP_006711870.1:p.Glu4876=
XM_006711808.2:c.14451A>G	XP_006711871.1:p.Glu4817=
XM_006711810.2:c.14595A>G	XP_006711873.1:p.Glu4865=
XM_006711802.3:c.14688A>G	XP_006711865.1:p.Glu4896=
XM_006711803.3:c.14685A>G	XP_006711866.1:p.Glu4895=
XM_006711804.3:c.14664A>G	XP_006711867.1:p.Glu4888=
XM_006711805.3:c.14658A>G	XP_006711868.1:p.Glu4886=
XM_006711806.3:c.14652A>G	XP_006711869.1:p.Glu4884=
XM_006711807.3:c.14628A>G	XP_006711870.1:p.Glu4876=
XM_006711808.3:c.14451A>G	XP_006711871.1:p.Glu4817=
XM_006711810.3:c.14595A>G	XP_006711873.1:p.Glu4865=
XM_017002028.1:c.14667A>G	XP_016857517.1:p.Glu4889=
NM_001035.3:c.14634A>G MANE Select	NP_001026.2:p.Glu4878=