Canonical Allele Identifier: CA007686

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784417C>T , CM000663.2:g.237784417C>T	GRCh38
NC_000001.10:g.237947717C>T , CM000663.1:g.237947717C>T	GRCh37
NC_000001.9:g.236014340C>T	NCBI36
NG_008799.2:g.747016C>T
NG_008799.3:g.747234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3797C>T	ENSP00000499659.2:n.*3797C>T
ENST00000659194.3:c.12693C>T	ENSP00000499653.3:p.Phe4231=
ENST00000660292.2:c.12726C>T	ENSP00000499787.2:p.Phe4242=
ENST00000659194.2:c.4882C>T
ENST00000366574.7:c.12705C>T MANE Select	ENSP00000355533.2:p.Phe4235=
ENST00000659194.1:c.4882C>T
ENST00000660292.1:c.2758C>T
ENST00000360064.7:c.12657C>T	ENSP00000353174.7:p.Phe4219=
ENST00000366574.6:c.12705C>T	ENSP00000355533.2:p.Phe4235=
ENST00000609119.1:n.3900C>T
NM_001035.2:c.12705C>T	NP_001026.2:p.Phe4235=
XM_006711802.2:c.12759C>T	XP_006711865.1:p.Phe4253=
XM_006711803.2:c.12756C>T	XP_006711866.1:p.Phe4252=
XM_006711804.2:c.12735C>T	XP_006711867.1:p.Phe4245=
XM_006711805.2:c.12729C>T	XP_006711868.1:p.Phe4243=
XM_006711806.2:c.12723C>T	XP_006711869.1:p.Phe4241=
XM_006711807.2:c.12699C>T	XP_006711870.1:p.Phe4233=
XM_006711808.2:c.12522C>T	XP_006711871.1:p.Phe4174=
XM_006711810.2:c.12666C>T	XP_006711873.1:p.Phe4222=
XM_006711802.3:c.12759C>T	XP_006711865.1:p.Phe4253=
XM_006711803.3:c.12756C>T	XP_006711866.1:p.Phe4252=
XM_006711804.3:c.12735C>T	XP_006711867.1:p.Phe4245=
XM_006711805.3:c.12729C>T	XP_006711868.1:p.Phe4243=
XM_006711806.3:c.12723C>T	XP_006711869.1:p.Phe4241=
XM_006711807.3:c.12699C>T	XP_006711870.1:p.Phe4233=
XM_006711808.3:c.12522C>T	XP_006711871.1:p.Phe4174=
XM_006711810.3:c.12666C>T	XP_006711873.1:p.Phe4222=
XM_017002028.1:c.12738C>T	XP_016857517.1:p.Phe4246=
NM_001035.3:c.12705C>T MANE Select	NP_001026.2:p.Phe4235=