Canonical Allele Identifier: CA345424300

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1044450
• ClinVar RCV Id: RCV002545594 ; RCV004005224
• dbSNP Id: rs1660964820
• gnomAD v4: 1-237808970-C-T
• MyVariant Identifiers: chr1:g.237972270C>T (hg19) ; chr1:g.237808970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808970C>T , CM000663.2:g.237808970C>T	GRCh38
NC_000001.10:g.237972270C>T , CM000663.1:g.237972270C>T	GRCh37
NC_000001.9:g.236038893C>T	NCBI36
NG_008799.2:g.771569C>T
NG_008799.3:g.771787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5460C>T	ENSP00000499659.2:n.*5460C>T
ENST00000659194.3:c.14350C>T	ENSP00000499653.3:p.Arg4784Ter
ENST00000660292.2:c.14389C>T	ENSP00000499787.2:p.Arg4797Ter
ENST00000659194.2:c.6539C>T
ENST00000366574.7:c.14368C>T MANE Select	ENSP00000355533.2:p.Arg4790Ter
ENST00000360064.7:c.14317C>T	ENSP00000353174.7:p.Arg4773Ter
ENST00000366574.6:c.14368C>T	ENSP00000355533.2:p.Arg4790Ter
ENST00000608590.5:n.879C>T
NM_001035.2:c.14368C>T	NP_001026.2:p.Arg4790Ter
XM_006711802.2:c.14422C>T	XP_006711865.1:p.Arg4808Ter
XM_006711803.2:c.14419C>T	XP_006711866.1:p.Arg4807Ter
XM_006711804.2:c.14398C>T	XP_006711867.1:p.Arg4800Ter
XM_006711805.2:c.14392C>T	XP_006711868.1:p.Arg4798Ter
XM_006711806.2:c.14386C>T	XP_006711869.1:p.Arg4796Ter
XM_006711807.2:c.14362C>T	XP_006711870.1:p.Arg4788Ter
XM_006711808.2:c.14185C>T	XP_006711871.1:p.Arg4729Ter
XM_006711810.2:c.14329C>T	XP_006711873.1:p.Arg4777Ter
XM_006711802.3:c.14422C>T	XP_006711865.1:p.Arg4808Ter
XM_006711803.3:c.14419C>T	XP_006711866.1:p.Arg4807Ter
XM_006711804.3:c.14398C>T	XP_006711867.1:p.Arg4800Ter
XM_006711805.3:c.14392C>T	XP_006711868.1:p.Arg4798Ter
XM_006711806.3:c.14386C>T	XP_006711869.1:p.Arg4796Ter
XM_006711807.3:c.14362C>T	XP_006711870.1:p.Arg4788Ter
XM_006711808.3:c.14185C>T	XP_006711871.1:p.Arg4729Ter
XM_006711810.3:c.14329C>T	XP_006711873.1:p.Arg4777Ter
XM_017002028.1:c.14401C>T	XP_016857517.1:p.Arg4801Ter
NM_001035.3:c.14368C>T MANE Select	NP_001026.2:p.Arg4790Ter