Canonical Allele Identifier: CA345409846

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2442200
• ClinVar RCV Id: RCV003148532 ; RCV003148533 ; RCV003148531
• MyVariant Identifiers: chr1:g.237993925T>G (hg19) ; chr1:g.237830625T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830625T>G , CM000663.2:g.237830625T>G	GRCh38
NC_000001.10:g.237993925T>G , CM000663.1:g.237993925T>G	GRCh37
NC_000001.9:g.236060548T>G	NCBI36
NG_008799.2:g.793224T>G
NG_008799.3:g.793442T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5843T>G	ENSP00000499659.2:n.*5843T>G
ENST00000659194.3:c.14733T>G	ENSP00000499653.3:p.Asn4911Lys
ENST00000660292.2:c.14772T>G	ENSP00000499787.2:p.Asn4924Lys
ENST00000659194.2:c.6922T>G
ENST00000366574.7:c.14751T>G MANE Select	ENSP00000355533.2:p.Asn4917Lys
ENST00000360064.7:c.14700T>G	ENSP00000353174.7:p.Asn4900Lys
ENST00000366574.6:c.14751T>G	ENSP00000355533.2:p.Asn4917Lys
ENST00000462585.1:n.594T>G
ENST00000608590.5:n.1167-889T>G
NM_001035.2:c.14751T>G	NP_001026.2:p.Asn4917Lys
XM_006711802.2:c.14805T>G	XP_006711865.1:p.Asn4935Lys
XM_006711803.2:c.14802T>G	XP_006711866.1:p.Asn4934Lys
XM_006711804.2:c.14781T>G	XP_006711867.1:p.Asn4927Lys
XM_006711805.2:c.14775T>G	XP_006711868.1:p.Asn4925Lys
XM_006711806.2:c.14769T>G	XP_006711869.1:p.Asn4923Lys
XM_006711807.2:c.14745T>G	XP_006711870.1:p.Asn4915Lys
XM_006711808.2:c.14568T>G	XP_006711871.1:p.Asn4856Lys
XM_006711810.2:c.14712T>G	XP_006711873.1:p.Asn4904Lys
XM_006711802.3:c.14805T>G	XP_006711865.1:p.Asn4935Lys
XM_006711803.3:c.14802T>G	XP_006711866.1:p.Asn4934Lys
XM_006711804.3:c.14781T>G	XP_006711867.1:p.Asn4927Lys
XM_006711805.3:c.14775T>G	XP_006711868.1:p.Asn4925Lys
XM_006711806.3:c.14769T>G	XP_006711869.1:p.Asn4923Lys
XM_006711807.3:c.14745T>G	XP_006711870.1:p.Asn4915Lys
XM_006711808.3:c.14568T>G	XP_006711871.1:p.Asn4856Lys
XM_006711810.3:c.14712T>G	XP_006711873.1:p.Asn4904Lys
XM_017002028.1:c.14784T>G	XP_016857517.1:p.Asn4928Lys
NM_001035.3:c.14751T>G MANE Select	NP_001026.2:p.Asn4917Lys