Canonical Allele Identifier: CA085334

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237786011A>G , CM000663.2:g.237786011A>G	GRCh38
NC_000001.10:g.237949311A>G , CM000663.1:g.237949311A>G	GRCh37
NC_000001.9:g.236015934A>G	NCBI36
NG_008799.2:g.748610A>G
NG_008799.3:g.748828A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13303A>G MANE Select	NP_001026.2:p.Thr4435Ala
ENST00000366574.7:c.13303A>G MANE Select	ENSP00000355533.2:p.Thr4435Ala
NM_001035.2:c.13303A>G	NP_001026.2:p.Thr4435Ala
ENST00000360064.7:c.13243+1005A>G	ENSP00000353174.7:n.13243+1005A>G
ENST00000366574.6:c.13303A>G	ENSP00000355533.2:p.Thr4435Ala
ENST00000609119.1:n.4498A>G
ENST00000609119.2:c.*4395A>G	ENSP00000499659.2:n.*4395A>G
ENST00000659194.2:c.5474A>G
ENST00000659194.3:c.13285A>G	ENSP00000499653.3:p.Thr4429Ala
ENST00000660292.1:c.3356A>G
ENST00000660292.2:c.13324A>G	ENSP00000499787.2:p.Thr4442Ala
XM_006711802.2:c.13357A>G	XP_006711865.1:p.Thr4453Ala
XM_006711802.3:c.13357A>G	XP_006711865.1:p.Thr4453Ala
XM_006711803.2:c.13354A>G	XP_006711866.1:p.Thr4452Ala
XM_006711803.3:c.13354A>G	XP_006711866.1:p.Thr4452Ala
XM_006711804.2:c.13333A>G	XP_006711867.1:p.Thr4445Ala
XM_006711804.3:c.13333A>G	XP_006711867.1:p.Thr4445Ala
XM_006711805.2:c.13327A>G	XP_006711868.1:p.Thr4443Ala
XM_006711805.3:c.13327A>G	XP_006711868.1:p.Thr4443Ala
XM_006711806.2:c.13321A>G	XP_006711869.1:p.Thr4441Ala
XM_006711806.3:c.13321A>G	XP_006711869.1:p.Thr4441Ala
XM_006711807.2:c.13297A>G	XP_006711870.1:p.Thr4433Ala
XM_006711807.3:c.13297A>G	XP_006711870.1:p.Thr4433Ala
XM_006711808.2:c.13120A>G	XP_006711871.1:p.Thr4374Ala
XM_006711808.3:c.13120A>G	XP_006711871.1:p.Thr4374Ala
XM_006711810.2:c.13264A>G	XP_006711873.1:p.Thr4422Ala
XM_006711810.3:c.13264A>G	XP_006711873.1:p.Thr4422Ala
XM_017002028.1:c.13336A>G	XP_016857517.1:p.Thr4446Ala