Canonical Allele Identifier: CA2487423601

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640988_237640991delinsGCTC , CM000663.2:g.237640988_237640991delinsGCTC	GRCh38
NC_000001.10:g.237804288_237804291delinsGCTC , CM000663.1:g.237804288_237804291delinsGCTC	GRCh37
NC_000001.9:g.235870911_235870914delinsGCTC	NCBI36
NG_008799.2:g.603587_603590delinsGCTC
NG_008799.3:g.603805_603808delinsGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7207_7210delinsGCTC	ENSP00000499659.2:p.Ala2403=
ENST00000659194.3:c.7207_7210delinsGCTC	ENSP00000499653.3:p.Ala2403=
ENST00000660292.2:c.7207_7210delinsGCTC	ENSP00000499787.2:p.Ala2403=
ENST00000366574.7:c.7207_7210delinsGCTC MANE Select	ENSP00000355533.2:p.Ala2403=
ENST00000360064.7:c.7159_7162delinsGCTC	ENSP00000353174.7:p.Ala2387=
ENST00000366574.6:c.7207_7210delinsGCTC	ENSP00000355533.2:p.Ala2403=
NM_001035.2:c.7207_7210delinsGCTC	NP_001026.2:p.Ala2403=
XM_006711802.2:c.7237_7240delinsGCTC	XP_006711865.1:p.Ala2413=
XM_006711803.2:c.7234_7237delinsGCTC	XP_006711866.1:p.Ala2412=
XM_006711804.2:c.7237_7240delinsGCTC	XP_006711867.1:p.Ala2413=
XM_006711805.2:c.7207_7210delinsGCTC	XP_006711868.1:p.Ala2403=
XM_006711806.2:c.7237_7240delinsGCTC	XP_006711869.1:p.Ala2413=
XM_006711807.2:c.7237_7240delinsGCTC	XP_006711870.1:p.Ala2413=
XM_006711808.2:c.7237_7240delinsGCTC	XP_006711871.1:p.Ala2413=
XM_006711809.2:c.7237_7240delinsGCTC	XP_006711872.1:p.Ala2413=
XM_006711810.2:c.7204_7207delinsGCTC	XP_006711873.1:p.Ala2402=
XR_949152.1:n.7518_7521delinsGCTC
XM_006711802.3:c.7237_7240delinsGCTC	XP_006711865.1:p.Ala2413=
XM_006711803.3:c.7234_7237delinsGCTC	XP_006711866.1:p.Ala2412=
XM_006711804.3:c.7237_7240delinsGCTC	XP_006711867.1:p.Ala2413=
XM_006711805.3:c.7207_7210delinsGCTC	XP_006711868.1:p.Ala2403=
XM_006711806.3:c.7237_7240delinsGCTC	XP_006711869.1:p.Ala2413=
XM_006711807.3:c.7237_7240delinsGCTC	XP_006711870.1:p.Ala2413=
XM_006711808.3:c.7237_7240delinsGCTC	XP_006711871.1:p.Ala2413=
XM_006711810.3:c.7204_7207delinsGCTC	XP_006711873.1:p.Ala2402=
XM_017002028.1:c.7216_7219delinsGCTC	XP_016857517.1:p.Ala2406=
XR_002957299.1:n.7551_7554delinsGCTC
XR_949152.2:n.7551_7554delinsGCTC
NM_001035.3:c.7207_7210delinsGCTC MANE Select	NP_001026.2:p.Ala2403=