Canonical Allele Identifier: CA345429394

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828422-G-A
• MyVariant Identifiers: chr1:g.237991722G>A (hg19) ; chr1:g.237828422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828422G>A , CM000663.2:g.237828422G>A	GRCh38
NC_000001.10:g.237991722G>A , CM000663.1:g.237991722G>A	GRCh37
NC_000001.9:g.236058345G>A	NCBI36
NG_008799.2:g.791021G>A
NG_008799.3:g.791239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5724G>A	ENSP00000499659.2:n.*5724G>A
ENST00000659194.3:c.14614G>A	ENSP00000499653.3:p.Glu4872Lys
ENST00000660292.2:c.14653G>A	ENSP00000499787.2:p.Glu4885Lys
ENST00000659194.2:c.6803G>A
ENST00000366574.7:c.14632G>A MANE Select	ENSP00000355533.2:p.Glu4878Lys
ENST00000360064.7:c.14581G>A	ENSP00000353174.7:p.Glu4861Lys
ENST00000366574.6:c.14632G>A	ENSP00000355533.2:p.Glu4878Lys
ENST00000608590.5:n.1143G>A
NM_001035.2:c.14632G>A	NP_001026.2:p.Glu4878Lys
XM_006711802.2:c.14686G>A	XP_006711865.1:p.Glu4896Lys
XM_006711803.2:c.14683G>A	XP_006711866.1:p.Glu4895Lys
XM_006711804.2:c.14662G>A	XP_006711867.1:p.Glu4888Lys
XM_006711805.2:c.14656G>A	XP_006711868.1:p.Glu4886Lys
XM_006711806.2:c.14650G>A	XP_006711869.1:p.Glu4884Lys
XM_006711807.2:c.14626G>A	XP_006711870.1:p.Glu4876Lys
XM_006711808.2:c.14449G>A	XP_006711871.1:p.Glu4817Lys
XM_006711810.2:c.14593G>A	XP_006711873.1:p.Glu4865Lys
XM_006711802.3:c.14686G>A	XP_006711865.1:p.Glu4896Lys
XM_006711803.3:c.14683G>A	XP_006711866.1:p.Glu4895Lys
XM_006711804.3:c.14662G>A	XP_006711867.1:p.Glu4888Lys
XM_006711805.3:c.14656G>A	XP_006711868.1:p.Glu4886Lys
XM_006711806.3:c.14650G>A	XP_006711869.1:p.Glu4884Lys
XM_006711807.3:c.14626G>A	XP_006711870.1:p.Glu4876Lys
XM_006711808.3:c.14449G>A	XP_006711871.1:p.Glu4817Lys
XM_006711810.3:c.14593G>A	XP_006711873.1:p.Glu4865Lys
XM_017002028.1:c.14665G>A	XP_016857517.1:p.Glu4889Lys
NM_001035.3:c.14632G>A MANE Select	NP_001026.2:p.Glu4878Lys