Canonical Allele Identifier: CA424032364

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1553613
• ClinVar RCV Id: RCV002560770
• dbSNP Id: rs2149354452
• MyVariant Identifiers: chr1:g.237947618G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784318G>A , CM000663.2:g.237784318G>A	GRCh38
NC_000001.10:g.237947618G>A , CM000663.1:g.237947618G>A	GRCh37
NC_000001.9:g.236014241G>A	NCBI36
NG_008799.2:g.746917G>A
NG_008799.3:g.747135G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3698G>A	ENSP00000499659.2:n.*3698G>A
ENST00000659194.3:c.12594G>A	ENSP00000499653.3:p.Leu4198=
ENST00000660292.2:c.12627G>A	ENSP00000499787.2:p.Leu4209=
ENST00000659194.2:c.4783G>A
ENST00000366574.7:c.12606G>A MANE Select	ENSP00000355533.2:p.Leu4202=
ENST00000659194.1:c.4783G>A
ENST00000660292.1:c.2659G>A
ENST00000360064.7:c.12558G>A	ENSP00000353174.7:p.Leu4186=
ENST00000366574.6:c.12606G>A	ENSP00000355533.2:p.Leu4202=
ENST00000609119.1:n.3801G>A
NM_001035.2:c.12606G>A	NP_001026.2:p.Leu4202=
XM_006711802.2:c.12660G>A	XP_006711865.1:p.Leu4220=
XM_006711803.2:c.12657G>A	XP_006711866.1:p.Leu4219=
XM_006711804.2:c.12636G>A	XP_006711867.1:p.Leu4212=
XM_006711805.2:c.12630G>A	XP_006711868.1:p.Leu4210=
XM_006711806.2:c.12624G>A	XP_006711869.1:p.Leu4208=
XM_006711807.2:c.12600G>A	XP_006711870.1:p.Leu4200=
XM_006711808.2:c.12423G>A	XP_006711871.1:p.Leu4141=
XM_006711810.2:c.12567G>A	XP_006711873.1:p.Leu4189=
XM_006711802.3:c.12660G>A	XP_006711865.1:p.Leu4220=
XM_006711803.3:c.12657G>A	XP_006711866.1:p.Leu4219=
XM_006711804.3:c.12636G>A	XP_006711867.1:p.Leu4212=
XM_006711805.3:c.12630G>A	XP_006711868.1:p.Leu4210=
XM_006711806.3:c.12624G>A	XP_006711869.1:p.Leu4208=
XM_006711807.3:c.12600G>A	XP_006711870.1:p.Leu4200=
XM_006711808.3:c.12423G>A	XP_006711871.1:p.Leu4141=
XM_006711810.3:c.12567G>A	XP_006711873.1:p.Leu4189=
XM_017002028.1:c.12639G>A	XP_016857517.1:p.Leu4213=
NM_001035.3:c.12606G>A MANE Select	NP_001026.2:p.Leu4202=