Canonical Allele Identifier: CA424032137

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1148950
• ClinVar RCV Id: RCV002564129
• dbSNP Id: rs2149353678
• MyVariant Identifiers: chr1:g.237947414C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784114C>A , CM000663.2:g.237784114C>A	GRCh38
NC_000001.10:g.237947414C>A , CM000663.1:g.237947414C>A	GRCh37
NC_000001.9:g.236014037C>A	NCBI36
NG_008799.2:g.746713C>A
NG_008799.3:g.746931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3494C>A	ENSP00000499659.2:n.*3494C>A
ENST00000659194.3:c.12390C>A	ENSP00000499653.3:p.Gly4130=
ENST00000660292.2:c.12423C>A	ENSP00000499787.2:p.Gly4141=
ENST00000659194.2:c.4579C>A
ENST00000366574.7:c.12402C>A MANE Select	ENSP00000355533.2:p.Gly4134=
ENST00000659194.1:c.4579C>A
ENST00000660292.1:c.2455C>A
ENST00000360064.7:c.12354C>A	ENSP00000353174.7:p.Gly4118=
ENST00000366574.6:c.12402C>A	ENSP00000355533.2:p.Gly4134=
ENST00000609119.1:n.3597C>A
NM_001035.2:c.12402C>A	NP_001026.2:p.Gly4134=
XM_006711802.2:c.12456C>A	XP_006711865.1:p.Gly4152=
XM_006711803.2:c.12453C>A	XP_006711866.1:p.Gly4151=
XM_006711804.2:c.12432C>A	XP_006711867.1:p.Gly4144=
XM_006711805.2:c.12426C>A	XP_006711868.1:p.Gly4142=
XM_006711806.2:c.12420C>A	XP_006711869.1:p.Gly4140=
XM_006711807.2:c.12396C>A	XP_006711870.1:p.Gly4132=
XM_006711808.2:c.12219C>A	XP_006711871.1:p.Gly4073=
XM_006711810.2:c.12363C>A	XP_006711873.1:p.Gly4121=
XM_006711802.3:c.12456C>A	XP_006711865.1:p.Gly4152=
XM_006711803.3:c.12453C>A	XP_006711866.1:p.Gly4151=
XM_006711804.3:c.12432C>A	XP_006711867.1:p.Gly4144=
XM_006711805.3:c.12426C>A	XP_006711868.1:p.Gly4142=
XM_006711806.3:c.12420C>A	XP_006711869.1:p.Gly4140=
XM_006711807.3:c.12396C>A	XP_006711870.1:p.Gly4132=
XM_006711808.3:c.12219C>A	XP_006711871.1:p.Gly4073=
XM_006711810.3:c.12363C>A	XP_006711873.1:p.Gly4121=
XM_017002028.1:c.12435C>A	XP_016857517.1:p.Gly4145=
NM_001035.3:c.12402C>A MANE Select	NP_001026.2:p.Gly4134=