Canonical Allele Identifier: CA424032112

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784357-A-G
• MyVariant Identifiers: chr1:g.237947657A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784357A>G , CM000663.2:g.237784357A>G	GRCh38
NC_000001.10:g.237947657A>G , CM000663.1:g.237947657A>G	GRCh37
NC_000001.9:g.236014280A>G	NCBI36
NG_008799.2:g.746956A>G
NG_008799.3:g.747174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3737A>G	ENSP00000499659.2:n.*3737A>G
ENST00000659194.3:c.12633A>G	ENSP00000499653.3:p.Ser4211=
ENST00000660292.2:c.12666A>G	ENSP00000499787.2:p.Ser4222=
ENST00000659194.2:c.4822A>G
ENST00000366574.7:c.12645A>G MANE Select	ENSP00000355533.2:p.Ser4215=
ENST00000659194.1:c.4822A>G
ENST00000660292.1:c.2698A>G
ENST00000360064.7:c.12597A>G	ENSP00000353174.7:p.Ser4199=
ENST00000366574.6:c.12645A>G	ENSP00000355533.2:p.Ser4215=
ENST00000609119.1:n.3840A>G
NM_001035.2:c.12645A>G	NP_001026.2:p.Ser4215=
XM_006711802.2:c.12699A>G	XP_006711865.1:p.Ser4233=
XM_006711803.2:c.12696A>G	XP_006711866.1:p.Ser4232=
XM_006711804.2:c.12675A>G	XP_006711867.1:p.Ser4225=
XM_006711805.2:c.12669A>G	XP_006711868.1:p.Ser4223=
XM_006711806.2:c.12663A>G	XP_006711869.1:p.Ser4221=
XM_006711807.2:c.12639A>G	XP_006711870.1:p.Ser4213=
XM_006711808.2:c.12462A>G	XP_006711871.1:p.Ser4154=
XM_006711810.2:c.12606A>G	XP_006711873.1:p.Ser4202=
XM_006711802.3:c.12699A>G	XP_006711865.1:p.Ser4233=
XM_006711803.3:c.12696A>G	XP_006711866.1:p.Ser4232=
XM_006711804.3:c.12675A>G	XP_006711867.1:p.Ser4225=
XM_006711805.3:c.12669A>G	XP_006711868.1:p.Ser4223=
XM_006711806.3:c.12663A>G	XP_006711869.1:p.Ser4221=
XM_006711807.3:c.12639A>G	XP_006711870.1:p.Ser4213=
XM_006711808.3:c.12462A>G	XP_006711871.1:p.Ser4154=
XM_006711810.3:c.12606A>G	XP_006711873.1:p.Ser4202=
XM_017002028.1:c.12678A>G	XP_016857517.1:p.Ser4226=
NM_001035.3:c.12645A>G MANE Select	NP_001026.2:p.Ser4215=