Canonical Allele Identifier: CA345429386

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828420-A-G
• COSMIC: COSM3977310 ; COSM3977311
• MyVariant Identifiers: chr1:g.237991720A>G (hg19) ; chr1:g.237828420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828420A>G , CM000663.2:g.237828420A>G	GRCh38
NC_000001.10:g.237991720A>G , CM000663.1:g.237991720A>G	GRCh37
NC_000001.9:g.236058343A>G	NCBI36
NG_008799.2:g.791019A>G
NG_008799.3:g.791237A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5722A>G	ENSP00000499659.2:n.*5722A>G
ENST00000659194.3:c.14612A>G	ENSP00000499653.3:p.Gln4871Arg
ENST00000660292.2:c.14651A>G	ENSP00000499787.2:p.Gln4884Arg
ENST00000659194.2:c.6801A>G
ENST00000366574.7:c.14630A>G MANE Select	ENSP00000355533.2:p.Gln4877Arg
ENST00000360064.7:c.14579A>G	ENSP00000353174.7:p.Gln4860Arg
ENST00000366574.6:c.14630A>G	ENSP00000355533.2:p.Gln4877Arg
ENST00000608590.5:n.1141A>G
NM_001035.2:c.14630A>G	NP_001026.2:p.Gln4877Arg
XM_006711802.2:c.14684A>G	XP_006711865.1:p.Gln4895Arg
XM_006711803.2:c.14681A>G	XP_006711866.1:p.Gln4894Arg
XM_006711804.2:c.14660A>G	XP_006711867.1:p.Gln4887Arg
XM_006711805.2:c.14654A>G	XP_006711868.1:p.Gln4885Arg
XM_006711806.2:c.14648A>G	XP_006711869.1:p.Gln4883Arg
XM_006711807.2:c.14624A>G	XP_006711870.1:p.Gln4875Arg
XM_006711808.2:c.14447A>G	XP_006711871.1:p.Gln4816Arg
XM_006711810.2:c.14591A>G	XP_006711873.1:p.Gln4864Arg
XM_006711802.3:c.14684A>G	XP_006711865.1:p.Gln4895Arg
XM_006711803.3:c.14681A>G	XP_006711866.1:p.Gln4894Arg
XM_006711804.3:c.14660A>G	XP_006711867.1:p.Gln4887Arg
XM_006711805.3:c.14654A>G	XP_006711868.1:p.Gln4885Arg
XM_006711806.3:c.14648A>G	XP_006711869.1:p.Gln4883Arg
XM_006711807.3:c.14624A>G	XP_006711870.1:p.Gln4875Arg
XM_006711808.3:c.14447A>G	XP_006711871.1:p.Gln4816Arg
XM_006711810.3:c.14591A>G	XP_006711873.1:p.Gln4864Arg
XM_017002028.1:c.14663A>G	XP_016857517.1:p.Gln4888Arg
NM_001035.3:c.14630A>G MANE Select	NP_001026.2:p.Gln4877Arg