Canonical Allele Identifier: CA085112

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783739C>T , CM000663.2:g.237783739C>T	GRCh38
NC_000001.10:g.237947039C>T , CM000663.1:g.237947039C>T	GRCh37
NC_000001.9:g.236013662C>T	NCBI36
NG_008799.2:g.746338C>T
NG_008799.3:g.746556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3119C>T	ENSP00000499659.2:n.*3119C>T
ENST00000659194.3:c.12015C>T	ENSP00000499653.3:p.Asn4005=
ENST00000660292.2:c.12048C>T	ENSP00000499787.2:p.Asn4016=
ENST00000659194.2:c.4204C>T
ENST00000366574.7:c.12027C>T MANE Select	ENSP00000355533.2:p.Asn4009=
ENST00000659194.1:c.4204C>T
ENST00000660292.1:c.2080C>T
ENST00000360064.7:c.11979C>T	ENSP00000353174.7:p.Asn3993=
ENST00000366574.6:c.12027C>T	ENSP00000355533.2:p.Asn4009=
ENST00000609119.1:n.3222C>T
NM_001035.2:c.12027C>T	NP_001026.2:p.Asn4009=
XM_006711802.2:c.12081C>T	XP_006711865.1:p.Asn4027=
XM_006711803.2:c.12078C>T	XP_006711866.1:p.Asn4026=
XM_006711804.2:c.12057C>T	XP_006711867.1:p.Asn4019=
XM_006711805.2:c.12051C>T	XP_006711868.1:p.Asn4017=
XM_006711806.2:c.12045C>T	XP_006711869.1:p.Asn4015=
XM_006711807.2:c.12021C>T	XP_006711870.1:p.Asn4007=
XM_006711808.2:c.11844C>T	XP_006711871.1:p.Asn3948=
XM_006711810.2:c.11988C>T	XP_006711873.1:p.Asn3996=
XM_006711802.3:c.12081C>T	XP_006711865.1:p.Asn4027=
XM_006711803.3:c.12078C>T	XP_006711866.1:p.Asn4026=
XM_006711804.3:c.12057C>T	XP_006711867.1:p.Asn4019=
XM_006711805.3:c.12051C>T	XP_006711868.1:p.Asn4017=
XM_006711806.3:c.12045C>T	XP_006711869.1:p.Asn4015=
XM_006711807.3:c.12021C>T	XP_006711870.1:p.Asn4007=
XM_006711808.3:c.11844C>T	XP_006711871.1:p.Asn3948=
XM_006711810.3:c.11988C>T	XP_006711873.1:p.Asn3996=
XM_017002028.1:c.12060C>T	XP_016857517.1:p.Asn4020=
NM_001035.3:c.12027C>T MANE Select	NP_001026.2:p.Asn4009=