Canonical Allele Identifier: CA345407041

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772037G>C , CM000663.2:g.237772037G>C	GRCh38
NC_000001.10:g.237935337G>C , CM000663.1:g.237935337G>C	GRCh37
NC_000001.9:g.236001960G>C	NCBI36
NG_008799.2:g.734636G>C
NG_008799.3:g.734854G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11583G>C MANE Select	NP_001026.2:p.Gln3861His
ENST00000366574.7:c.11583G>C MANE Select	ENSP00000355533.2:p.Gln3861His
NM_001035.2:c.11583G>C	NP_001026.2:p.Gln3861His
ENST00000360064.7:c.11535G>C	ENSP00000353174.7:p.Gln3845His
ENST00000366574.6:c.11583G>C	ENSP00000355533.2:p.Gln3861His
ENST00000609119.1:n.2778G>C
ENST00000609119.2:c.*2675G>C	ENSP00000499659.2:n.*2675G>C
ENST00000659194.1:c.3760G>C
ENST00000659194.2:c.3760G>C
ENST00000659194.3:c.11571G>C	ENSP00000499653.3:p.Gln3857His
ENST00000660292.1:c.1636G>C
ENST00000660292.2:c.11604G>C	ENSP00000499787.2:p.Gln3868His
XM_006711802.2:c.11637G>C	XP_006711865.1:p.Gln3879His
XM_006711802.3:c.11637G>C	XP_006711865.1:p.Gln3879His
XM_006711803.2:c.11634G>C	XP_006711866.1:p.Gln3878His
XM_006711803.3:c.11634G>C	XP_006711866.1:p.Gln3878His
XM_006711804.2:c.11613G>C	XP_006711867.1:p.Gln3871His
XM_006711804.3:c.11613G>C	XP_006711867.1:p.Gln3871His
XM_006711805.2:c.11607G>C	XP_006711868.1:p.Gln3869His
XM_006711805.3:c.11607G>C	XP_006711868.1:p.Gln3869His
XM_006711806.2:c.11601G>C	XP_006711869.1:p.Gln3867His
XM_006711806.3:c.11601G>C	XP_006711869.1:p.Gln3867His
XM_006711807.2:c.11577G>C	XP_006711870.1:p.Gln3859His
XM_006711807.3:c.11577G>C	XP_006711870.1:p.Gln3859His
XM_006711808.2:c.11400G>C	XP_006711871.1:p.Gln3800His
XM_006711808.3:c.11400G>C	XP_006711871.1:p.Gln3800His
XM_006711810.2:c.11544G>C	XP_006711873.1:p.Gln3848His
XM_006711810.3:c.11544G>C	XP_006711873.1:p.Gln3848His
XM_017002028.1:c.11616G>C	XP_016857517.1:p.Gln3872His