Canonical Allele Identifier: CA345413851

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784370-G-C
• MyVariant Identifiers: chr1:g.237947670G>C (hg19) ; chr1:g.237784370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784370G>C , CM000663.2:g.237784370G>C	GRCh38
NC_000001.10:g.237947670G>C , CM000663.1:g.237947670G>C	GRCh37
NC_000001.9:g.236014293G>C	NCBI36
NG_008799.2:g.746969G>C
NG_008799.3:g.747187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3750G>C	ENSP00000499659.2:n.*3750G>C
ENST00000659194.3:c.12646G>C	ENSP00000499653.3:p.Glu4216Gln
ENST00000660292.2:c.12679G>C	ENSP00000499787.2:p.Glu4227Gln
ENST00000659194.2:c.4835G>C
ENST00000366574.7:c.12658G>C MANE Select	ENSP00000355533.2:p.Glu4220Gln
ENST00000659194.1:c.4835G>C
ENST00000660292.1:c.2711G>C
ENST00000360064.7:c.12610G>C	ENSP00000353174.7:p.Glu4204Gln
ENST00000366574.6:c.12658G>C	ENSP00000355533.2:p.Glu4220Gln
ENST00000609119.1:n.3853G>C
NM_001035.2:c.12658G>C	NP_001026.2:p.Glu4220Gln
XM_006711802.2:c.12712G>C	XP_006711865.1:p.Glu4238Gln
XM_006711803.2:c.12709G>C	XP_006711866.1:p.Glu4237Gln
XM_006711804.2:c.12688G>C	XP_006711867.1:p.Glu4230Gln
XM_006711805.2:c.12682G>C	XP_006711868.1:p.Glu4228Gln
XM_006711806.2:c.12676G>C	XP_006711869.1:p.Glu4226Gln
XM_006711807.2:c.12652G>C	XP_006711870.1:p.Glu4218Gln
XM_006711808.2:c.12475G>C	XP_006711871.1:p.Glu4159Gln
XM_006711810.2:c.12619G>C	XP_006711873.1:p.Glu4207Gln
XM_006711802.3:c.12712G>C	XP_006711865.1:p.Glu4238Gln
XM_006711803.3:c.12709G>C	XP_006711866.1:p.Glu4237Gln
XM_006711804.3:c.12688G>C	XP_006711867.1:p.Glu4230Gln
XM_006711805.3:c.12682G>C	XP_006711868.1:p.Glu4228Gln
XM_006711806.3:c.12676G>C	XP_006711869.1:p.Glu4226Gln
XM_006711807.3:c.12652G>C	XP_006711870.1:p.Glu4218Gln
XM_006711808.3:c.12475G>C	XP_006711871.1:p.Glu4159Gln
XM_006711810.3:c.12619G>C	XP_006711873.1:p.Glu4207Gln
XM_017002028.1:c.12691G>C	XP_016857517.1:p.Glu4231Gln
NM_001035.3:c.12658G>C MANE Select	NP_001026.2:p.Glu4220Gln