Canonical Allele Identifier: CA424051584

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237801916C>T , CM000663.2:g.237801916C>T	GRCh38
NC_000001.10:g.237965216C>T , CM000663.1:g.237965216C>T	GRCh37
NC_000001.9:g.236031839C>T	NCBI36
NG_008799.2:g.764515C>T
NG_008799.3:g.764733C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14151C>T MANE Select	NP_001026.2:p.Asn4717=
ENST00000366574.7:c.14151C>T MANE Select	ENSP00000355533.2:p.Asn4717=
NM_001035.2:c.14151C>T	NP_001026.2:p.Asn4717=
ENST00000360064.7:c.14100C>T	ENSP00000353174.7:p.Asn4700=
ENST00000366574.6:c.14151C>T	ENSP00000355533.2:p.Asn4717=
ENST00000466626.1:n.108C>T
ENST00000608590.5:n.662C>T
ENST00000609119.2:c.*5243C>T	ENSP00000499659.2:n.*5243C>T
ENST00000659194.2:c.6322C>T
ENST00000659194.3:c.14133C>T	ENSP00000499653.3:p.Asn4711=
ENST00000660292.2:c.14172C>T	ENSP00000499787.2:p.Asn4724=
XM_006711802.2:c.14205C>T	XP_006711865.1:p.Asn4735=
XM_006711802.3:c.14205C>T	XP_006711865.1:p.Asn4735=
XM_006711803.2:c.14202C>T	XP_006711866.1:p.Asn4734=
XM_006711803.3:c.14202C>T	XP_006711866.1:p.Asn4734=
XM_006711804.2:c.14181C>T	XP_006711867.1:p.Asn4727=
XM_006711804.3:c.14181C>T	XP_006711867.1:p.Asn4727=
XM_006711805.2:c.14175C>T	XP_006711868.1:p.Asn4725=
XM_006711805.3:c.14175C>T	XP_006711868.1:p.Asn4725=
XM_006711806.2:c.14169C>T	XP_006711869.1:p.Asn4723=
XM_006711806.3:c.14169C>T	XP_006711869.1:p.Asn4723=
XM_006711807.2:c.14145C>T	XP_006711870.1:p.Asn4715=
XM_006711807.3:c.14145C>T	XP_006711870.1:p.Asn4715=
XM_006711808.2:c.13968C>T	XP_006711871.1:p.Asn4656=
XM_006711808.3:c.13968C>T	XP_006711871.1:p.Asn4656=
XM_006711810.2:c.14112C>T	XP_006711873.1:p.Asn4704=
XM_006711810.3:c.14112C>T	XP_006711873.1:p.Asn4704=
XM_017002028.1:c.14184C>T	XP_016857517.1:p.Asn4728=