Canonical Allele Identifier: CA006880

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237742290A>T , CM000663.2:g.237742290A>T	GRCh38
NC_000001.10:g.237905590A>T , CM000663.1:g.237905590A>T	GRCh37
NC_000001.9:g.235972213A>T	NCBI36
NG_008799.2:g.704889A>T
NG_008799.3:g.705107A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2127-6A>T	ENSP00000499659.2:n.*2127-6A>T
ENST00000659194.3:c.11056-6A>T	ENSP00000499653.3:n.11056-6A>T
ENST00000660292.2:c.11056-6A>T	ENSP00000499787.2:n.11056-6A>T
ENST00000659194.2:c.3245-6A>T
ENST00000366574.7:c.11092-6A>T MANE Select	ENSP00000355533.2:n.11092-6A>T
ENST00000659194.1:c.3245-6A>T
ENST00000660292.1:c.1088-6A>T
ENST00000661330.1:c.899-6A>T
ENST00000360064.7:c.11044-6A>T	ENSP00000353174.7:n.11044-6A>T
ENST00000366574.6:c.11092-6A>T	ENSP00000355533.2:n.11092-6A>T
ENST00000609119.1:n.2230-6A>T
NM_001035.2:c.11092-6A>T	NP_001026.2:n.11092-6A>T
XM_006711802.2:c.11122-6A>T	XP_006711865.1:n.11122-6A>T
XM_006711803.2:c.11119-6A>T	XP_006711866.1:n.11119-6A>T
XM_006711804.2:c.11122-6A>T	XP_006711867.1:n.11122-6A>T
XM_006711805.2:c.11092-6A>T	XP_006711868.1:n.11092-6A>T
XM_006711806.2:c.11086-6A>T	XP_006711869.1:n.11086-6A>T
XM_006711807.2:c.11086-6A>T	XP_006711870.1:n.11086-6A>T
XM_006711808.2:c.10885-6A>T	XP_006711871.1:n.10885-6A>T
XM_006711810.2:c.11053-6A>T	XP_006711873.1:n.11053-6A>T
XM_006711802.3:c.11122-6A>T	XP_006711865.1:n.11122-6A>T
XM_006711803.3:c.11119-6A>T	XP_006711866.1:n.11119-6A>T
XM_006711804.3:c.11122-6A>T	XP_006711867.1:n.11122-6A>T
XM_006711805.3:c.11092-6A>T	XP_006711868.1:n.11092-6A>T
XM_006711806.3:c.11086-6A>T	XP_006711869.1:n.11086-6A>T
XM_006711807.3:c.11086-6A>T	XP_006711870.1:n.11086-6A>T
XM_006711808.3:c.10885-6A>T	XP_006711871.1:n.10885-6A>T
XM_006711810.3:c.11053-6A>T	XP_006711873.1:n.11053-6A>T
XM_017002028.1:c.11101-6A>T	XP_016857517.1:n.11101-6A>T
NM_001035.3:c.11092-6A>T MANE Select	NP_001026.2:n.11092-6A>T