Canonical Allele Identifier: CA2586968536

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627872_237627881delinsTCC , CM000663.2:g.237627872_237627881delinsTCC	GRCh38
NC_000001.10:g.237791172_237791181delinsTCC , CM000663.1:g.237791172_237791181delinsTCC	GRCh37
NC_000001.9:g.235857795_235857804delinsTCC	NCBI36
NG_008799.2:g.590471_590480delinsTCC
NG_008799.3:g.590689_590698delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6232_6241delinsTCC	ENSP00000499659.2:p.Pro2078SerfsTer2
ENST00000659194.3:c.6232_6241delinsTCC	ENSP00000499653.3:p.Pro2078SerfsTer2
ENST00000660292.2:c.6232_6241delinsTCC	ENSP00000499787.2:p.Pro2078SerfsTer2
ENST00000366574.7:c.6232_6241delinsTCC MANE Select	ENSP00000355533.2:p.Pro2078SerfsTer2
ENST00000360064.7:c.6184_6193delinsTCC	ENSP00000353174.7:p.Pro2062SerfsTer2
ENST00000366574.6:c.6232_6241delinsTCC	ENSP00000355533.2:p.Pro2078SerfsTer2
NM_001035.2:c.6232_6241delinsTCC	NP_001026.2:p.Pro2078SerfsTer2
XM_006711802.2:c.6262_6271delinsTCC	XP_006711865.1:p.Pro2088SerfsTer2
XM_006711803.2:c.6259_6268delinsTCC	XP_006711866.1:p.Pro2087SerfsTer2
XM_006711804.2:c.6262_6271delinsTCC	XP_006711867.1:p.Pro2088SerfsTer2
XM_006711805.2:c.6232_6241delinsTCC	XP_006711868.1:p.Pro2078SerfsTer2
XM_006711806.2:c.6262_6271delinsTCC	XP_006711869.1:p.Pro2088SerfsTer2
XM_006711807.2:c.6262_6271delinsTCC	XP_006711870.1:p.Pro2088SerfsTer2
XM_006711808.2:c.6262_6271delinsTCC	XP_006711871.1:p.Pro2088SerfsTer2
XM_006711809.2:c.6262_6271delinsTCC	XP_006711872.1:p.Pro2088SerfsTer2
XM_006711810.2:c.6229_6238delinsTCC	XP_006711873.1:p.Pro2077SerfsTer2
XR_949152.1:n.6543_6552delinsTCC
XM_006711802.3:c.6262_6271delinsTCC	XP_006711865.1:p.Pro2088SerfsTer2
XM_006711803.3:c.6259_6268delinsTCC	XP_006711866.1:p.Pro2087SerfsTer2
XM_006711804.3:c.6262_6271delinsTCC	XP_006711867.1:p.Pro2088SerfsTer2
XM_006711805.3:c.6232_6241delinsTCC	XP_006711868.1:p.Pro2078SerfsTer2
XM_006711806.3:c.6262_6271delinsTCC	XP_006711869.1:p.Pro2088SerfsTer2
XM_006711807.3:c.6262_6271delinsTCC	XP_006711870.1:p.Pro2088SerfsTer2
XM_006711808.3:c.6262_6271delinsTCC	XP_006711871.1:p.Pro2088SerfsTer2
XM_006711810.3:c.6229_6238delinsTCC	XP_006711873.1:p.Pro2077SerfsTer2
XM_017002028.1:c.6241_6250delinsTCC	XP_016857517.1:p.Pro2081SerfsTer2
XR_002957299.1:n.6576_6585delinsTCC
XR_949152.2:n.6576_6585delinsTCC
NM_001035.3:c.6232_6241delinsTCC MANE Select	NP_001026.2:p.Pro2078SerfsTer2