Canonical Allele Identifier: CA2534457682

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707068_237707069insAGTTTCTCCAAAGACGGTATGTT , CM000663.2:g.237707068_237707069insAGTTTCTCCAAAGACGGTATGTT	GRCh38
NC_000001.10:g.237870368_237870369insAGTTTCTCCAAAGACGGTATGTT , CM000663.1:g.237870368_237870369insAGTTTCTCCAAAGACGGTATGTT	GRCh37
NC_000001.9:g.235936991_235936992insAGTTTCTCCAAAGACGGTATGTT	NCBI36
NG_008799.2:g.669667_669668insAGTTTCTCCAAAGACGGTATGTT
NG_008799.3:g.669885_669886insAGTTTCTCCAAAGACGGTATGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*735_*736insAGTTTCTCCAAAGACGGTATGTT	ENSP00000499659.2:n.*735_*736insAGTTTCTCCAAAGACGGTATGTT
ENST00000659194.3:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	ENSP00000499653.3:p.Val3234GlufsTer?
ENST00000660292.2:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	ENSP00000499787.2:p.Val3234GlufsTer?
ENST00000659194.2:c.1889_1890insAGTTTCTCCAAAGACGGTATGTT
ENST00000366574.7:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT MANE Select	ENSP00000355533.2:p.Val3234GlufsTer?
ENST00000659194.1:c.1889_1890insAGTTTCTCCAAAGACGGTATGTT
ENST00000360064.7:c.9652_9653insAGTTTCTCCAAAGACGGTATGTT	ENSP00000353174.7:p.Val3218GlufsTer?
ENST00000366574.6:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	ENSP00000355533.2:p.Val3234GlufsTer?
ENST00000609119.1:n.838_839insAGTTTCTCCAAAGACGGTATGTT
NM_001035.2:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	NP_001026.2:p.Val3234GlufsTer?
XM_006711802.2:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711865.1:p.Val3244GlufsTer?
XM_006711803.2:c.9727_9728insAGTTTCTCCAAAGACGGTATGTT	XP_006711866.1:p.Val3243GlufsTer?
XM_006711804.2:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711867.1:p.Val3244GlufsTer?
XM_006711805.2:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	XP_006711868.1:p.Val3234GlufsTer?
XM_006711806.2:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711869.1:p.Val3244GlufsTer?
XM_006711807.2:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711870.1:p.Val3244GlufsTer?
XM_006711808.2:c.9493_9494insAGTTTCTCCAAAGACGGTATGTT	XP_006711871.1:p.Val3165GlufsTer?
XM_006711810.2:c.9697_9698insAGTTTCTCCAAAGACGGTATGTT	XP_006711873.1:p.Val3233GlufsTer?
XM_006711802.3:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711865.1:p.Val3244GlufsTer?
XM_006711803.3:c.9727_9728insAGTTTCTCCAAAGACGGTATGTT	XP_006711866.1:p.Val3243GlufsTer?
XM_006711804.3:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711867.1:p.Val3244GlufsTer?
XM_006711805.3:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT	XP_006711868.1:p.Val3234GlufsTer?
XM_006711806.3:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711869.1:p.Val3244GlufsTer?
XM_006711807.3:c.9730_9731insAGTTTCTCCAAAGACGGTATGTT	XP_006711870.1:p.Val3244GlufsTer?
XM_006711808.3:c.9493_9494insAGTTTCTCCAAAGACGGTATGTT	XP_006711871.1:p.Val3165GlufsTer?
XM_006711810.3:c.9697_9698insAGTTTCTCCAAAGACGGTATGTT	XP_006711873.1:p.Val3233GlufsTer?
XM_017002028.1:c.9709_9710insAGTTTCTCCAAAGACGGTATGTT	XP_016857517.1:p.Val3237GlufsTer?
NM_001035.3:c.9700_9701insAGTTTCTCCAAAGACGGTATGTT MANE Select	NP_001026.2:p.Val3234GlufsTer?