Canonical Allele Identifier: CA085169

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784043A>C , CM000663.2:g.237784043A>C	GRCh38
NC_000001.10:g.237947343A>C , CM000663.1:g.237947343A>C	GRCh37
NC_000001.9:g.236013966A>C	NCBI36
NG_008799.2:g.746642A>C
NG_008799.3:g.746860A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12331A>C MANE Select	NP_001026.2:p.Asn4111His
ENST00000366574.7:c.12331A>C MANE Select	ENSP00000355533.2:p.Asn4111His
NM_001035.2:c.12331A>C	NP_001026.2:p.Asn4111His
ENST00000360064.7:c.12283A>C	ENSP00000353174.7:p.Asn4095His
ENST00000366574.6:c.12331A>C	ENSP00000355533.2:p.Asn4111His
ENST00000609119.1:n.3526A>C
ENST00000609119.2:c.*3423A>C	ENSP00000499659.2:n.*3423A>C
ENST00000659194.1:c.4508A>C
ENST00000659194.2:c.4508A>C
ENST00000659194.3:c.12319A>C	ENSP00000499653.3:p.Asn4107His
ENST00000660292.1:c.2384A>C
ENST00000660292.2:c.12352A>C	ENSP00000499787.2:p.Asn4118His
XM_006711802.2:c.12385A>C	XP_006711865.1:p.Asn4129His
XM_006711802.3:c.12385A>C	XP_006711865.1:p.Asn4129His
XM_006711803.2:c.12382A>C	XP_006711866.1:p.Asn4128His
XM_006711803.3:c.12382A>C	XP_006711866.1:p.Asn4128His
XM_006711804.2:c.12361A>C	XP_006711867.1:p.Asn4121His
XM_006711804.3:c.12361A>C	XP_006711867.1:p.Asn4121His
XM_006711805.2:c.12355A>C	XP_006711868.1:p.Asn4119His
XM_006711805.3:c.12355A>C	XP_006711868.1:p.Asn4119His
XM_006711806.2:c.12349A>C	XP_006711869.1:p.Asn4117His
XM_006711806.3:c.12349A>C	XP_006711869.1:p.Asn4117His
XM_006711807.2:c.12325A>C	XP_006711870.1:p.Asn4109His
XM_006711807.3:c.12325A>C	XP_006711870.1:p.Asn4109His
XM_006711808.2:c.12148A>C	XP_006711871.1:p.Asn4050His
XM_006711808.3:c.12148A>C	XP_006711871.1:p.Asn4050His
XM_006711810.2:c.12292A>C	XP_006711873.1:p.Asn4098His
XM_006711810.3:c.12292A>C	XP_006711873.1:p.Asn4098His
XM_017002028.1:c.12364A>C	XP_016857517.1:p.Asn4122His