Canonical Allele Identifier: CA424032062

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947630C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784330C>A , CM000663.2:g.237784330C>A	GRCh38
NC_000001.10:g.237947630C>A , CM000663.1:g.237947630C>A	GRCh37
NC_000001.9:g.236014253C>A	NCBI36
NG_008799.2:g.746929C>A
NG_008799.3:g.747147C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3710C>A	ENSP00000499659.2:n.*3710C>A
ENST00000659194.3:c.12606C>A	ENSP00000499653.3:p.Ile4202=
ENST00000660292.2:c.12639C>A	ENSP00000499787.2:p.Ile4213=
ENST00000659194.2:c.4795C>A
ENST00000366574.7:c.12618C>A MANE Select	ENSP00000355533.2:p.Ile4206=
ENST00000659194.1:c.4795C>A
ENST00000660292.1:c.2671C>A
ENST00000360064.7:c.12570C>A	ENSP00000353174.7:p.Ile4190=
ENST00000366574.6:c.12618C>A	ENSP00000355533.2:p.Ile4206=
ENST00000609119.1:n.3813C>A
NM_001035.2:c.12618C>A	NP_001026.2:p.Ile4206=
XM_006711802.2:c.12672C>A	XP_006711865.1:p.Ile4224=
XM_006711803.2:c.12669C>A	XP_006711866.1:p.Ile4223=
XM_006711804.2:c.12648C>A	XP_006711867.1:p.Ile4216=
XM_006711805.2:c.12642C>A	XP_006711868.1:p.Ile4214=
XM_006711806.2:c.12636C>A	XP_006711869.1:p.Ile4212=
XM_006711807.2:c.12612C>A	XP_006711870.1:p.Ile4204=
XM_006711808.2:c.12435C>A	XP_006711871.1:p.Ile4145=
XM_006711810.2:c.12579C>A	XP_006711873.1:p.Ile4193=
XM_006711802.3:c.12672C>A	XP_006711865.1:p.Ile4224=
XM_006711803.3:c.12669C>A	XP_006711866.1:p.Ile4223=
XM_006711804.3:c.12648C>A	XP_006711867.1:p.Ile4216=
XM_006711805.3:c.12642C>A	XP_006711868.1:p.Ile4214=
XM_006711806.3:c.12636C>A	XP_006711869.1:p.Ile4212=
XM_006711807.3:c.12612C>A	XP_006711870.1:p.Ile4204=
XM_006711808.3:c.12435C>A	XP_006711871.1:p.Ile4145=
XM_006711810.3:c.12579C>A	XP_006711873.1:p.Ile4193=
XM_017002028.1:c.12651C>A	XP_016857517.1:p.Ile4217=
NM_001035.3:c.12618C>A MANE Select	NP_001026.2:p.Ile4206=