Canonical Allele Identifier: CA2487471285

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237756273G>T , CM000663.2:g.237756273G>T	GRCh38
NC_000001.10:g.237919573G>T , CM000663.1:g.237919573G>T	GRCh37
NC_000001.9:g.235986196G>T	NCBI36
NG_008799.2:g.718872G>T
NG_008799.3:g.719090G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11146-15G>T MANE Select	NP_001026.2:n.11146-15G>T
ENST00000366574.7:c.11146-15G>T MANE Select	ENSP00000355533.2:n.11146-15G>T
NM_001035.2:c.11146-15G>T	NP_001026.2:n.11146-15G>T
ENST00000360064.7:c.11098-15G>T	ENSP00000353174.7:n.11098-15G>T
ENST00000366574.6:c.11146-15G>T	ENSP00000355533.2:n.11146-15G>T
ENST00000609119.1:n.2341-15G>T
ENST00000609119.2:c.*2238-15G>T	ENSP00000499659.2:n.*2238-15G>T
ENST00000659194.1:c.3323-15G>T
ENST00000659194.2:c.3323-15G>T
ENST00000659194.3:c.11134-15G>T	ENSP00000499653.3:n.11134-15G>T
ENST00000660292.1:c.1166-15G>T
ENST00000660292.2:c.11134-15G>T	ENSP00000499787.2:n.11134-15G>T
XM_006711802.2:c.11200-15G>T	XP_006711865.1:n.11200-15G>T
XM_006711802.3:c.11200-15G>T	XP_006711865.1:n.11200-15G>T
XM_006711803.2:c.11197-15G>T	XP_006711866.1:n.11197-15G>T
XM_006711803.3:c.11197-15G>T	XP_006711866.1:n.11197-15G>T
XM_006711804.2:c.11176-15G>T	XP_006711867.1:n.11176-15G>T
XM_006711804.3:c.11176-15G>T	XP_006711867.1:n.11176-15G>T
XM_006711805.2:c.11170-15G>T	XP_006711868.1:n.11170-15G>T
XM_006711805.3:c.11170-15G>T	XP_006711868.1:n.11170-15G>T
XM_006711806.2:c.11164-15G>T	XP_006711869.1:n.11164-15G>T
XM_006711806.3:c.11164-15G>T	XP_006711869.1:n.11164-15G>T
XM_006711807.2:c.11140-15G>T	XP_006711870.1:n.11140-15G>T
XM_006711807.3:c.11140-15G>T	XP_006711870.1:n.11140-15G>T
XM_006711808.2:c.10963-15G>T	XP_006711871.1:n.10963-15G>T
XM_006711808.3:c.10963-15G>T	XP_006711871.1:n.10963-15G>T
XM_006711810.2:c.11107-15G>T	XP_006711873.1:n.11107-15G>T
XM_006711810.3:c.11107-15G>T	XP_006711873.1:n.11107-15G>T
XM_017002028.1:c.11179-15G>T	XP_016857517.1:n.11179-15G>T