Canonical Allele Identifier: CA066408

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947376G>A (hg19) ; chr1:g.237784076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784076G>A , CM000663.2:g.237784076G>A	GRCh38
NC_000001.10:g.237947376G>A , CM000663.1:g.237947376G>A	GRCh37
NC_000001.9:g.236013999G>A	NCBI36
NG_008799.2:g.746675G>A
NG_008799.3:g.746893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3456G>A	ENSP00000499659.2:n.*3456G>A
ENST00000659194.3:c.12352G>A	ENSP00000499653.3:p.Ala4118Thr
ENST00000660292.2:c.12385G>A	ENSP00000499787.2:p.Ala4129Thr
ENST00000659194.2:c.4541G>A
ENST00000366574.7:c.12364G>A MANE Select	ENSP00000355533.2:p.Ala4122Thr
ENST00000659194.1:c.4541G>A
ENST00000660292.1:c.2417G>A
ENST00000360064.7:c.12316G>A	ENSP00000353174.7:p.Ala4106Thr
ENST00000366574.6:c.12364G>A	ENSP00000355533.2:p.Ala4122Thr
ENST00000609119.1:n.3559G>A
NM_001035.2:c.12364G>A	NP_001026.2:p.Ala4122Thr
XM_006711802.2:c.12418G>A	XP_006711865.1:p.Ala4140Thr
XM_006711803.2:c.12415G>A	XP_006711866.1:p.Ala4139Thr
XM_006711804.2:c.12394G>A	XP_006711867.1:p.Ala4132Thr
XM_006711805.2:c.12388G>A	XP_006711868.1:p.Ala4130Thr
XM_006711806.2:c.12382G>A	XP_006711869.1:p.Ala4128Thr
XM_006711807.2:c.12358G>A	XP_006711870.1:p.Ala4120Thr
XM_006711808.2:c.12181G>A	XP_006711871.1:p.Ala4061Thr
XM_006711810.2:c.12325G>A	XP_006711873.1:p.Ala4109Thr
XM_006711802.3:c.12418G>A	XP_006711865.1:p.Ala4140Thr
XM_006711803.3:c.12415G>A	XP_006711866.1:p.Ala4139Thr
XM_006711804.3:c.12394G>A	XP_006711867.1:p.Ala4132Thr
XM_006711805.3:c.12388G>A	XP_006711868.1:p.Ala4130Thr
XM_006711806.3:c.12382G>A	XP_006711869.1:p.Ala4128Thr
XM_006711807.3:c.12358G>A	XP_006711870.1:p.Ala4120Thr
XM_006711808.3:c.12181G>A	XP_006711871.1:p.Ala4061Thr
XM_006711810.3:c.12325G>A	XP_006711873.1:p.Ala4109Thr
XM_017002028.1:c.12397G>A	XP_016857517.1:p.Ala4133Thr
NM_001035.3:c.12364G>A MANE Select	NP_001026.2:p.Ala4122Thr