Canonical Allele Identifier: CA345408595

Gene: RYR2

Linked Data

• COSMIC: COSM906242
• MyVariant Identifiers: chr1:g.237870368G>A (hg19) ; chr1:g.237707068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707068G>A , CM000663.2:g.237707068G>A	GRCh38
NC_000001.10:g.237870368G>A , CM000663.1:g.237870368G>A	GRCh37
NC_000001.9:g.235936991G>A	NCBI36
NG_008799.2:g.669667G>A
NG_008799.3:g.669885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*735G>A	ENSP00000499659.2:n.*735G>A
ENST00000659194.3:c.9700G>A	ENSP00000499653.3:p.Val3234Ile
ENST00000660292.2:c.9700G>A	ENSP00000499787.2:p.Val3234Ile
ENST00000659194.2:c.1889G>A
ENST00000366574.7:c.9700G>A MANE Select	ENSP00000355533.2:p.Val3234Ile
ENST00000659194.1:c.1889G>A
ENST00000360064.7:c.9652G>A	ENSP00000353174.7:p.Val3218Ile
ENST00000366574.6:c.9700G>A	ENSP00000355533.2:p.Val3234Ile
ENST00000609119.1:n.838G>A
NM_001035.2:c.9700G>A	NP_001026.2:p.Val3234Ile
XM_006711802.2:c.9730G>A	XP_006711865.1:p.Val3244Ile
XM_006711803.2:c.9727G>A	XP_006711866.1:p.Val3243Ile
XM_006711804.2:c.9730G>A	XP_006711867.1:p.Val3244Ile
XM_006711805.2:c.9700G>A	XP_006711868.1:p.Val3234Ile
XM_006711806.2:c.9730G>A	XP_006711869.1:p.Val3244Ile
XM_006711807.2:c.9730G>A	XP_006711870.1:p.Val3244Ile
XM_006711808.2:c.9493G>A	XP_006711871.1:p.Val3165Ile
XM_006711810.2:c.9697G>A	XP_006711873.1:p.Val3233Ile
XM_006711802.3:c.9730G>A	XP_006711865.1:p.Val3244Ile
XM_006711803.3:c.9727G>A	XP_006711866.1:p.Val3243Ile
XM_006711804.3:c.9730G>A	XP_006711867.1:p.Val3244Ile
XM_006711805.3:c.9700G>A	XP_006711868.1:p.Val3234Ile
XM_006711806.3:c.9730G>A	XP_006711869.1:p.Val3244Ile
XM_006711807.3:c.9730G>A	XP_006711870.1:p.Val3244Ile
XM_006711808.3:c.9493G>A	XP_006711871.1:p.Val3165Ile
XM_006711810.3:c.9697G>A	XP_006711873.1:p.Val3233Ile
XM_017002028.1:c.9709G>A	XP_016857517.1:p.Val3237Ile
NM_001035.3:c.9700G>A MANE Select	NP_001026.2:p.Val3234Ile