Canonical Allele Identifier: CA345413656

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784285-C-A
• MyVariant Identifiers: chr1:g.237947585C>A (hg19) ; chr1:g.237784285C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784285C>A , CM000663.2:g.237784285C>A	GRCh38
NC_000001.10:g.237947585C>A , CM000663.1:g.237947585C>A	GRCh37
NC_000001.9:g.236014208C>A	NCBI36
NG_008799.2:g.746884C>A
NG_008799.3:g.747102C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3665C>A	ENSP00000499659.2:n.*3665C>A
ENST00000659194.3:c.12561C>A	ENSP00000499653.3:p.Asn4187Lys
ENST00000660292.2:c.12594C>A	ENSP00000499787.2:p.Asn4198Lys
ENST00000659194.2:c.4750C>A
ENST00000366574.7:c.12573C>A MANE Select	ENSP00000355533.2:p.Asn4191Lys
ENST00000659194.1:c.4750C>A
ENST00000660292.1:c.2626C>A
ENST00000360064.7:c.12525C>A	ENSP00000353174.7:p.Asn4175Lys
ENST00000366574.6:c.12573C>A	ENSP00000355533.2:p.Asn4191Lys
ENST00000609119.1:n.3768C>A
NM_001035.2:c.12573C>A	NP_001026.2:p.Asn4191Lys
XM_006711802.2:c.12627C>A	XP_006711865.1:p.Asn4209Lys
XM_006711803.2:c.12624C>A	XP_006711866.1:p.Asn4208Lys
XM_006711804.2:c.12603C>A	XP_006711867.1:p.Asn4201Lys
XM_006711805.2:c.12597C>A	XP_006711868.1:p.Asn4199Lys
XM_006711806.2:c.12591C>A	XP_006711869.1:p.Asn4197Lys
XM_006711807.2:c.12567C>A	XP_006711870.1:p.Asn4189Lys
XM_006711808.2:c.12390C>A	XP_006711871.1:p.Asn4130Lys
XM_006711810.2:c.12534C>A	XP_006711873.1:p.Asn4178Lys
XM_006711802.3:c.12627C>A	XP_006711865.1:p.Asn4209Lys
XM_006711803.3:c.12624C>A	XP_006711866.1:p.Asn4208Lys
XM_006711804.3:c.12603C>A	XP_006711867.1:p.Asn4201Lys
XM_006711805.3:c.12597C>A	XP_006711868.1:p.Asn4199Lys
XM_006711806.3:c.12591C>A	XP_006711869.1:p.Asn4197Lys
XM_006711807.3:c.12567C>A	XP_006711870.1:p.Asn4189Lys
XM_006711808.3:c.12390C>A	XP_006711871.1:p.Asn4130Lys
XM_006711810.3:c.12534C>A	XP_006711873.1:p.Asn4178Lys
XM_017002028.1:c.12606C>A	XP_016857517.1:p.Asn4202Lys
NM_001035.3:c.12573C>A MANE Select	NP_001026.2:p.Asn4191Lys