Canonical Allele Identifier: CA10587436

Gene: RYR2

Linked Data

• ClinVar Variation Id: 263679
• ClinVar RCV Id: RCV000243171 ; RCV000449578 ; RCV003387518
• dbSNP Id: rs886038888
• MyVariant Identifiers: chr1:g.237993885G>A (hg19) ; chr1:g.237830585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830585G>A , CM000663.2:g.237830585G>A	GRCh38
NC_000001.10:g.237993885G>A , CM000663.1:g.237993885G>A	GRCh37
NC_000001.9:g.236060508G>A	NCBI36
NG_008799.2:g.793184G>A
NG_008799.3:g.793402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5803G>A	ENSP00000499659.2:n.*5803G>A
ENST00000659194.3:c.14693G>A	ENSP00000499653.3:p.Gly4898Asp
ENST00000660292.2:c.14732G>A	ENSP00000499787.2:p.Gly4911Asp
ENST00000659194.2:c.6882G>A
ENST00000366574.7:c.14711G>A MANE Select	ENSP00000355533.2:p.Gly4904Asp
ENST00000360064.7:c.14660G>A	ENSP00000353174.7:p.Gly4887Asp
ENST00000366574.6:c.14711G>A	ENSP00000355533.2:p.Gly4904Asp
ENST00000462585.1:n.554G>A
ENST00000608590.5:n.1167-929G>A
NM_001035.2:c.14711G>A	NP_001026.2:p.Gly4904Asp
XM_006711802.2:c.14765G>A	XP_006711865.1:p.Gly4922Asp
XM_006711803.2:c.14762G>A	XP_006711866.1:p.Gly4921Asp
XM_006711804.2:c.14741G>A	XP_006711867.1:p.Gly4914Asp
XM_006711805.2:c.14735G>A	XP_006711868.1:p.Gly4912Asp
XM_006711806.2:c.14729G>A	XP_006711869.1:p.Gly4910Asp
XM_006711807.2:c.14705G>A	XP_006711870.1:p.Gly4902Asp
XM_006711808.2:c.14528G>A	XP_006711871.1:p.Gly4843Asp
XM_006711810.2:c.14672G>A	XP_006711873.1:p.Gly4891Asp
XM_006711802.3:c.14765G>A	XP_006711865.1:p.Gly4922Asp
XM_006711803.3:c.14762G>A	XP_006711866.1:p.Gly4921Asp
XM_006711804.3:c.14741G>A	XP_006711867.1:p.Gly4914Asp
XM_006711805.3:c.14735G>A	XP_006711868.1:p.Gly4912Asp
XM_006711806.3:c.14729G>A	XP_006711869.1:p.Gly4910Asp
XM_006711807.3:c.14705G>A	XP_006711870.1:p.Gly4902Asp
XM_006711808.3:c.14528G>A	XP_006711871.1:p.Gly4843Asp
XM_006711810.3:c.14672G>A	XP_006711873.1:p.Gly4891Asp
XM_017002028.1:c.14744G>A	XP_016857517.1:p.Gly4915Asp
NM_001035.3:c.14711G>A MANE Select	NP_001026.2:p.Gly4904Asp