Canonical Allele Identifier: CA345429359

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828414-A-G
• COSMIC: COSM5478216 ; COSM5478217
• MyVariant Identifiers: chr1:g.237991714A>G (hg19) ; chr1:g.237828414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828414A>G , CM000663.2:g.237828414A>G	GRCh38
NC_000001.10:g.237991714A>G , CM000663.1:g.237991714A>G	GRCh37
NC_000001.9:g.236058337A>G	NCBI36
NG_008799.2:g.791013A>G
NG_008799.3:g.791231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5716A>G	ENSP00000499659.2:n.*5716A>G
ENST00000659194.3:c.14606A>G	ENSP00000499653.3:p.Asp4869Gly
ENST00000660292.2:c.14645A>G	ENSP00000499787.2:p.Asp4882Gly
ENST00000659194.2:c.6795A>G
ENST00000366574.7:c.14624A>G MANE Select	ENSP00000355533.2:p.Asp4875Gly
ENST00000360064.7:c.14573A>G	ENSP00000353174.7:p.Asp4858Gly
ENST00000366574.6:c.14624A>G	ENSP00000355533.2:p.Asp4875Gly
ENST00000608590.5:n.1135A>G
NM_001035.2:c.14624A>G	NP_001026.2:p.Asp4875Gly
XM_006711802.2:c.14678A>G	XP_006711865.1:p.Asp4893Gly
XM_006711803.2:c.14675A>G	XP_006711866.1:p.Asp4892Gly
XM_006711804.2:c.14654A>G	XP_006711867.1:p.Asp4885Gly
XM_006711805.2:c.14648A>G	XP_006711868.1:p.Asp4883Gly
XM_006711806.2:c.14642A>G	XP_006711869.1:p.Asp4881Gly
XM_006711807.2:c.14618A>G	XP_006711870.1:p.Asp4873Gly
XM_006711808.2:c.14441A>G	XP_006711871.1:p.Asp4814Gly
XM_006711810.2:c.14585A>G	XP_006711873.1:p.Asp4862Gly
XM_006711802.3:c.14678A>G	XP_006711865.1:p.Asp4893Gly
XM_006711803.3:c.14675A>G	XP_006711866.1:p.Asp4892Gly
XM_006711804.3:c.14654A>G	XP_006711867.1:p.Asp4885Gly
XM_006711805.3:c.14648A>G	XP_006711868.1:p.Asp4883Gly
XM_006711806.3:c.14642A>G	XP_006711869.1:p.Asp4881Gly
XM_006711807.3:c.14618A>G	XP_006711870.1:p.Asp4873Gly
XM_006711808.3:c.14441A>G	XP_006711871.1:p.Asp4814Gly
XM_006711810.3:c.14585A>G	XP_006711873.1:p.Asp4862Gly
XM_017002028.1:c.14657A>G	XP_016857517.1:p.Asp4886Gly
NM_001035.3:c.14624A>G MANE Select	NP_001026.2:p.Asp4875Gly