Canonical Allele Identifier: CA39953199

Gene: RYR2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237114311T>A , CM000663.2:g.237114311T>A	GRCh38
NC_000001.10:g.237277611T>A , CM000663.1:g.237277611T>A	GRCh37
NC_000001.9:g.235344234T>A	NCBI36
NG_008799.2:g.76910T>A
NG_008799.3:g.77128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.48+71742T>A	ENSP00000499659.2:n.48+71742T>A
ENST00000659194.3:c.48+71742T>A	ENSP00000499653.3:n.48+71742T>A
ENST00000660292.2:c.48+71742T>A	ENSP00000499787.2:n.48+71742T>A
ENST00000366574.7:c.48+71742T>A MANE Select	ENSP00000355533.2:n.48+71742T>A
ENST00000366574.6:c.48+71742T>A	ENSP00000355533.2:n.48+71742T>A
NM_001035.2:c.48+71742T>A	NP_001026.2:n.48+71742T>A
XM_006711802.2:c.48+71742T>A	XP_006711865.1:n.48+71742T>A
XM_006711803.2:c.48+71742T>A	XP_006711866.1:n.48+71742T>A
XM_006711804.2:c.48+71742T>A	XP_006711867.1:n.48+71742T>A
XM_006711805.2:c.48+71742T>A	XP_006711868.1:n.48+71742T>A
XM_006711806.2:c.48+71742T>A	XP_006711869.1:n.48+71742T>A
XM_006711807.2:c.48+71742T>A	XP_006711870.1:n.48+71742T>A
XM_006711808.2:c.48+71742T>A	XP_006711871.1:n.48+71742T>A
XM_006711809.2:c.48+71742T>A	XP_006711872.1:n.48+71742T>A
XM_006711810.2:c.48+71742T>A	XP_006711873.1:n.48+71742T>A
XR_949152.1:n.329+71742T>A
XM_006711802.3:c.48+71742T>A	XP_006711865.1:n.48+71742T>A
XM_006711803.3:c.48+71742T>A	XP_006711866.1:n.48+71742T>A
XM_006711804.3:c.48+71742T>A	XP_006711867.1:n.48+71742T>A
XM_006711805.3:c.48+71742T>A	XP_006711868.1:n.48+71742T>A
XM_006711806.3:c.48+71742T>A	XP_006711869.1:n.48+71742T>A
XM_006711807.3:c.48+71742T>A	XP_006711870.1:n.48+71742T>A
XM_006711808.3:c.48+71742T>A	XP_006711871.1:n.48+71742T>A
XM_006711810.3:c.48+71742T>A	XP_006711873.1:n.48+71742T>A
XM_017002028.1:c.48+71742T>A	XP_016857517.1:n.48+71742T>A
XR_002957299.1:n.362+71742T>A
XR_949152.2:n.362+71742T>A
NM_001035.3:c.48+71742T>A MANE Select	NP_001026.2:n.48+71742T>A