Canonical Allele Identifier: CA345413323

Gene: RYR2

Linked Data

• ClinVar Variation Id: 869429
• ClinVar RCV Id: RCV001089519 ; RCV001759857
• dbSNP Id: rs1695358851
• MyVariant Identifiers: chr1:g.237947467T>A (hg19) ; chr1:g.237784167T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784167T>A , CM000663.2:g.237784167T>A	GRCh38
NC_000001.10:g.237947467T>A , CM000663.1:g.237947467T>A	GRCh37
NC_000001.9:g.236014090T>A	NCBI36
NG_008799.2:g.746766T>A
NG_008799.3:g.746984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3547T>A	ENSP00000499659.2:n.*3547T>A
ENST00000659194.3:c.12443T>A	ENSP00000499653.3:p.Ile4148Asn
ENST00000660292.2:c.12476T>A	ENSP00000499787.2:p.Ile4159Asn
ENST00000659194.2:c.4632T>A
ENST00000366574.7:c.12455T>A MANE Select	ENSP00000355533.2:p.Ile4152Asn
ENST00000659194.1:c.4632T>A
ENST00000660292.1:c.2508T>A
ENST00000360064.7:c.12407T>A	ENSP00000353174.7:p.Ile4136Asn
ENST00000366574.6:c.12455T>A	ENSP00000355533.2:p.Ile4152Asn
ENST00000609119.1:n.3650T>A
NM_001035.2:c.12455T>A	NP_001026.2:p.Ile4152Asn
XM_006711802.2:c.12509T>A	XP_006711865.1:p.Ile4170Asn
XM_006711803.2:c.12506T>A	XP_006711866.1:p.Ile4169Asn
XM_006711804.2:c.12485T>A	XP_006711867.1:p.Ile4162Asn
XM_006711805.2:c.12479T>A	XP_006711868.1:p.Ile4160Asn
XM_006711806.2:c.12473T>A	XP_006711869.1:p.Ile4158Asn
XM_006711807.2:c.12449T>A	XP_006711870.1:p.Ile4150Asn
XM_006711808.2:c.12272T>A	XP_006711871.1:p.Ile4091Asn
XM_006711810.2:c.12416T>A	XP_006711873.1:p.Ile4139Asn
XM_006711802.3:c.12509T>A	XP_006711865.1:p.Ile4170Asn
XM_006711803.3:c.12506T>A	XP_006711866.1:p.Ile4169Asn
XM_006711804.3:c.12485T>A	XP_006711867.1:p.Ile4162Asn
XM_006711805.3:c.12479T>A	XP_006711868.1:p.Ile4160Asn
XM_006711806.3:c.12473T>A	XP_006711869.1:p.Ile4158Asn
XM_006711807.3:c.12449T>A	XP_006711870.1:p.Ile4150Asn
XM_006711808.3:c.12272T>A	XP_006711871.1:p.Ile4091Asn
XM_006711810.3:c.12416T>A	XP_006711873.1:p.Ile4139Asn
XM_017002028.1:c.12488T>A	XP_016857517.1:p.Ile4163Asn
NM_001035.3:c.12455T>A MANE Select	NP_001026.2:p.Ile4152Asn