Canonical Allele Identifier: CA39843813

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1208038
• ClinVar RCV Id: RCV001576218
• dbSNP Id: rs878966941
• gnomAD v2: 1-237971969-CAAAATAAAAT-C
• gnomAD v3: 1-237808669-CAAAATAAAAT-C
• gnomAD v4: 1-237808669-CAAAATAAAAT-C
• MyVariant Identifiers: chr1:g.237971970_237971979del (hg19) ; chr1:g.237808670_237808679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808688_237808697del , CM000663.2:g.237808688_237808697del	GRCh38
NC_000001.10:g.237971988_237971997del , CM000663.1:g.237971988_237971997del	GRCh37
NC_000001.9:g.236038611_236038620del	NCBI36
NG_008799.2:g.771287_771296del
NG_008799.3:g.771505_771514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-213_*5391-204del	ENSP00000499659.2:n.*5391-213_*5391-204del
ENST00000659194.3:c.14281-213_14281-204del	ENSP00000499653.3:n.14281-213_14281-204del
ENST00000660292.2:c.14320-213_14320-204del	ENSP00000499787.2:n.14320-213_14320-204del
ENST00000659194.2:c.6470-213_6470-204del
ENST00000366574.7:c.14299-213_14299-204del MANE Select	ENSP00000355533.2:n.14299-213_14299-204del
ENST00000360064.7:c.14248-213_14248-204del	ENSP00000353174.7:n.14248-213_14248-204del
ENST00000366574.6:c.14299-213_14299-204del	ENSP00000355533.2:n.14299-213_14299-204del
ENST00000608590.5:n.810-213_810-204del
NM_001035.2:c.14299-213_14299-204del	NP_001026.2:n.14299-213_14299-204del
XM_006711802.2:c.14353-213_14353-204del	XP_006711865.1:n.14353-213_14353-204del
XM_006711803.2:c.14350-213_14350-204del	XP_006711866.1:n.14350-213_14350-204del
XM_006711804.2:c.14329-213_14329-204del	XP_006711867.1:n.14329-213_14329-204del
XM_006711805.2:c.14323-213_14323-204del	XP_006711868.1:n.14323-213_14323-204del
XM_006711806.2:c.14317-213_14317-204del	XP_006711869.1:n.14317-213_14317-204del
XM_006711807.2:c.14293-213_14293-204del	XP_006711870.1:n.14293-213_14293-204del
XM_006711808.2:c.14116-213_14116-204del	XP_006711871.1:n.14116-213_14116-204del
XM_006711810.2:c.14260-213_14260-204del	XP_006711873.1:n.14260-213_14260-204del
XM_006711802.3:c.14353-213_14353-204del	XP_006711865.1:n.14353-213_14353-204del
XM_006711803.3:c.14350-213_14350-204del	XP_006711866.1:n.14350-213_14350-204del
XM_006711804.3:c.14329-213_14329-204del	XP_006711867.1:n.14329-213_14329-204del
XM_006711805.3:c.14323-213_14323-204del	XP_006711868.1:n.14323-213_14323-204del
XM_006711806.3:c.14317-213_14317-204del	XP_006711869.1:n.14317-213_14317-204del
XM_006711807.3:c.14293-213_14293-204del	XP_006711870.1:n.14293-213_14293-204del
XM_006711808.3:c.14116-213_14116-204del	XP_006711871.1:n.14116-213_14116-204del
XM_006711810.3:c.14260-213_14260-204del	XP_006711873.1:n.14260-213_14260-204del
XM_017002028.1:c.14332-213_14332-204del	XP_016857517.1:n.14332-213_14332-204del
NM_001035.3:c.14299-213_14299-204del MANE Select	NP_001026.2:n.14299-213_14299-204del