Canonical Allele Identifier: CA084211

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237709537T>C , CM000663.2:g.237709537T>C	GRCh38
NC_000001.10:g.237872837T>C , CM000663.1:g.237872837T>C	GRCh37
NC_000001.9:g.235939460T>C	NCBI36
NG_008799.2:g.672136T>C
NG_008799.3:g.672354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1235T>C	ENSP00000499659.2:n.*1235T>C
ENST00000659194.3:c.10200T>C	ENSP00000499653.3:p.Ala3400=
ENST00000660292.2:c.10200T>C	ENSP00000499787.2:p.Ala3400=
ENST00000659194.2:c.2389T>C
ENST00000366574.7:c.10200T>C MANE Select	ENSP00000355533.2:p.Ala3400=
ENST00000659194.1:c.2389T>C
ENST00000660292.1:c.232T>C
ENST00000661330.1:c.7T>C
ENST00000360064.7:c.10152T>C	ENSP00000353174.7:p.Ala3384=
ENST00000366574.6:c.10200T>C	ENSP00000355533.2:p.Ala3400=
ENST00000609119.1:n.1338T>C
NM_001035.2:c.10200T>C	NP_001026.2:p.Ala3400=
XM_006711802.2:c.10230T>C	XP_006711865.1:p.Ala3410=
XM_006711803.2:c.10227T>C	XP_006711866.1:p.Ala3409=
XM_006711804.2:c.10230T>C	XP_006711867.1:p.Ala3410=
XM_006711805.2:c.10200T>C	XP_006711868.1:p.Ala3400=
XM_006711806.2:c.10230T>C	XP_006711869.1:p.Ala3410=
XM_006711807.2:c.10230T>C	XP_006711870.1:p.Ala3410=
XM_006711808.2:c.9993T>C	XP_006711871.1:p.Ala3331=
XM_006711810.2:c.10197T>C	XP_006711873.1:p.Ala3399=
XM_006711802.3:c.10230T>C	XP_006711865.1:p.Ala3410=
XM_006711803.3:c.10227T>C	XP_006711866.1:p.Ala3409=
XM_006711804.3:c.10230T>C	XP_006711867.1:p.Ala3410=
XM_006711805.3:c.10200T>C	XP_006711868.1:p.Ala3400=
XM_006711806.3:c.10230T>C	XP_006711869.1:p.Ala3410=
XM_006711807.3:c.10230T>C	XP_006711870.1:p.Ala3410=
XM_006711808.3:c.9993T>C	XP_006711871.1:p.Ala3331=
XM_006711810.3:c.10197T>C	XP_006711873.1:p.Ala3399=
XM_017002028.1:c.10209T>C	XP_016857517.1:p.Ala3403=
NM_001035.3:c.10200T>C MANE Select	NP_001026.2:p.Ala3400=