Canonical Allele Identifier: CA066453

Gene: RYR2

Linked Data

• dbSNP Id: rs1247580708
• gnomAD v2: 1-237947481-C-T
• gnomAD v4: 1-237784181-C-T
• MyVariant Identifiers: chr1:g.237947481C>T (hg19) ; chr1:g.237784181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784181C>T , CM000663.2:g.237784181C>T	GRCh38
NC_000001.10:g.237947481C>T , CM000663.1:g.237947481C>T	GRCh37
NC_000001.9:g.236014104C>T	NCBI36
NG_008799.2:g.746780C>T
NG_008799.3:g.746998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3561C>T	ENSP00000499659.2:n.*3561C>T
ENST00000659194.3:c.12457C>T	ENSP00000499653.3:p.Arg4153Ter
ENST00000660292.2:c.12490C>T	ENSP00000499787.2:p.Arg4164Ter
ENST00000659194.2:c.4646C>T
ENST00000366574.7:c.12469C>T MANE Select	ENSP00000355533.2:p.Arg4157Ter
ENST00000659194.1:c.4646C>T
ENST00000660292.1:c.2522C>T
ENST00000360064.7:c.12421C>T	ENSP00000353174.7:p.Arg4141Ter
ENST00000366574.6:c.12469C>T	ENSP00000355533.2:p.Arg4157Ter
ENST00000609119.1:n.3664C>T
NM_001035.2:c.12469C>T	NP_001026.2:p.Arg4157Ter
XM_006711802.2:c.12523C>T	XP_006711865.1:p.Arg4175Ter
XM_006711803.2:c.12520C>T	XP_006711866.1:p.Arg4174Ter
XM_006711804.2:c.12499C>T	XP_006711867.1:p.Arg4167Ter
XM_006711805.2:c.12493C>T	XP_006711868.1:p.Arg4165Ter
XM_006711806.2:c.12487C>T	XP_006711869.1:p.Arg4163Ter
XM_006711807.2:c.12463C>T	XP_006711870.1:p.Arg4155Ter
XM_006711808.2:c.12286C>T	XP_006711871.1:p.Arg4096Ter
XM_006711810.2:c.12430C>T	XP_006711873.1:p.Arg4144Ter
XM_006711802.3:c.12523C>T	XP_006711865.1:p.Arg4175Ter
XM_006711803.3:c.12520C>T	XP_006711866.1:p.Arg4174Ter
XM_006711804.3:c.12499C>T	XP_006711867.1:p.Arg4167Ter
XM_006711805.3:c.12493C>T	XP_006711868.1:p.Arg4165Ter
XM_006711806.3:c.12487C>T	XP_006711869.1:p.Arg4163Ter
XM_006711807.3:c.12463C>T	XP_006711870.1:p.Arg4155Ter
XM_006711808.3:c.12286C>T	XP_006711871.1:p.Arg4096Ter
XM_006711810.3:c.12430C>T	XP_006711873.1:p.Arg4144Ter
XM_017002028.1:c.12502C>T	XP_016857517.1:p.Arg4168Ter
NM_001035.3:c.12469C>T MANE Select	NP_001026.2:p.Arg4157Ter