Canonical Allele Identifier: CA008325

Gene: RYR2

Linked Data

• ClinVar Variation Id: 180506
• ClinVar RCV Id: RCV000157469 ; RCV000489644
• dbSNP Id: rs730880200
• gnomAD v4: 1-237828425-C-A
• MyVariant Identifiers: chr1:g.237991725C>A (hg19) ; chr1:g.237828425C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828425C>A , CM000663.2:g.237828425C>A	GRCh38
NC_000001.10:g.237991725C>A , CM000663.1:g.237991725C>A	GRCh37
NC_000001.9:g.236058348C>A	NCBI36
NG_008799.2:g.791024C>A
NG_008799.3:g.791242C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5727C>A	ENSP00000499659.2:n.*5727C>A
ENST00000659194.3:c.14617C>A	ENSP00000499653.3:p.Gln4873Lys
ENST00000660292.2:c.14656C>A	ENSP00000499787.2:p.Gln4886Lys
ENST00000659194.2:c.6806C>A
ENST00000366574.7:c.14635C>A MANE Select	ENSP00000355533.2:p.Gln4879Lys
ENST00000360064.7:c.14584C>A	ENSP00000353174.7:p.Gln4862Lys
ENST00000366574.6:c.14635C>A	ENSP00000355533.2:p.Gln4879Lys
ENST00000608590.5:n.1146C>A
NM_001035.2:c.14635C>A	NP_001026.2:p.Gln4879Lys
XM_006711802.2:c.14689C>A	XP_006711865.1:p.Gln4897Lys
XM_006711803.2:c.14686C>A	XP_006711866.1:p.Gln4896Lys
XM_006711804.2:c.14665C>A	XP_006711867.1:p.Gln4889Lys
XM_006711805.2:c.14659C>A	XP_006711868.1:p.Gln4887Lys
XM_006711806.2:c.14653C>A	XP_006711869.1:p.Gln4885Lys
XM_006711807.2:c.14629C>A	XP_006711870.1:p.Gln4877Lys
XM_006711808.2:c.14452C>A	XP_006711871.1:p.Gln4818Lys
XM_006711810.2:c.14596C>A	XP_006711873.1:p.Gln4866Lys
XM_006711802.3:c.14689C>A	XP_006711865.1:p.Gln4897Lys
XM_006711803.3:c.14686C>A	XP_006711866.1:p.Gln4896Lys
XM_006711804.3:c.14665C>A	XP_006711867.1:p.Gln4889Lys
XM_006711805.3:c.14659C>A	XP_006711868.1:p.Gln4887Lys
XM_006711806.3:c.14653C>A	XP_006711869.1:p.Gln4885Lys
XM_006711807.3:c.14629C>A	XP_006711870.1:p.Gln4877Lys
XM_006711808.3:c.14452C>A	XP_006711871.1:p.Gln4818Lys
XM_006711810.3:c.14596C>A	XP_006711873.1:p.Gln4866Lys
XM_017002028.1:c.14668C>A	XP_016857517.1:p.Gln4890Lys
NM_001035.3:c.14635C>A MANE Select	NP_001026.2:p.Gln4879Lys