Canonical Allele Identifier: CA39843774

Gene: RYR2

Linked Data

• dbSNP Id: rs897705332
• MyVariant Identifiers: chr1:g.237971964_237971969del (hg19) ; chr1:g.237808664_237808669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808668_237808673del , CM000663.2:g.237808668_237808673del	GRCh38
NC_000001.10:g.237971968_237971973del , CM000663.1:g.237971968_237971973del	GRCh37
NC_000001.9:g.236038591_236038596del	NCBI36
NG_008799.2:g.771267_771272del
NG_008799.3:g.771485_771490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-233_*5391-228del	ENSP00000499659.2:n.*5391-233_*5391-228del
ENST00000659194.3:c.14281-233_14281-228del	ENSP00000499653.3:n.14281-233_14281-228del
ENST00000660292.2:c.14320-233_14320-228del	ENSP00000499787.2:n.14320-233_14320-228del
ENST00000659194.2:c.6470-233_6470-228del
ENST00000366574.7:c.14299-233_14299-228del MANE Select	ENSP00000355533.2:n.14299-233_14299-228del
ENST00000360064.7:c.14248-233_14248-228del	ENSP00000353174.7:n.14248-233_14248-228del
ENST00000366574.6:c.14299-233_14299-228del	ENSP00000355533.2:n.14299-233_14299-228del
ENST00000608590.5:n.810-233_810-228del
NM_001035.2:c.14299-233_14299-228del	NP_001026.2:n.14299-233_14299-228del
XM_006711802.2:c.14353-233_14353-228del	XP_006711865.1:n.14353-233_14353-228del
XM_006711803.2:c.14350-233_14350-228del	XP_006711866.1:n.14350-233_14350-228del
XM_006711804.2:c.14329-233_14329-228del	XP_006711867.1:n.14329-233_14329-228del
XM_006711805.2:c.14323-233_14323-228del	XP_006711868.1:n.14323-233_14323-228del
XM_006711806.2:c.14317-233_14317-228del	XP_006711869.1:n.14317-233_14317-228del
XM_006711807.2:c.14293-233_14293-228del	XP_006711870.1:n.14293-233_14293-228del
XM_006711808.2:c.14116-233_14116-228del	XP_006711871.1:n.14116-233_14116-228del
XM_006711810.2:c.14260-233_14260-228del	XP_006711873.1:n.14260-233_14260-228del
XM_006711802.3:c.14353-233_14353-228del	XP_006711865.1:n.14353-233_14353-228del
XM_006711803.3:c.14350-233_14350-228del	XP_006711866.1:n.14350-233_14350-228del
XM_006711804.3:c.14329-233_14329-228del	XP_006711867.1:n.14329-233_14329-228del
XM_006711805.3:c.14323-233_14323-228del	XP_006711868.1:n.14323-233_14323-228del
XM_006711806.3:c.14317-233_14317-228del	XP_006711869.1:n.14317-233_14317-228del
XM_006711807.3:c.14293-233_14293-228del	XP_006711870.1:n.14293-233_14293-228del
XM_006711808.3:c.14116-233_14116-228del	XP_006711871.1:n.14116-233_14116-228del
XM_006711810.3:c.14260-233_14260-228del	XP_006711873.1:n.14260-233_14260-228del
XM_017002028.1:c.14332-233_14332-228del	XP_016857517.1:n.14332-233_14332-228del
NM_001035.3:c.14299-233_14299-228del MANE Select	NP_001026.2:n.14299-233_14299-228del