Canonical Allele Identifier: CA084942

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237759858G>A , CM000663.2:g.237759858G>A	GRCh38
NC_000001.10:g.237923158G>A , CM000663.1:g.237923158G>A	GRCh37
NC_000001.9:g.235989781G>A	NCBI36
NG_008799.2:g.722457G>A
NG_008799.3:g.722675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2494+6G>A	ENSP00000499659.2:n.*2494+6G>A
ENST00000659194.3:c.11390+6G>A	ENSP00000499653.3:n.11390+6G>A
ENST00000660292.2:c.11390+6G>A	ENSP00000499787.2:n.11390+6G>A
ENST00000659194.2:c.3579+6G>A
ENST00000366574.7:c.11402+6G>A MANE Select	ENSP00000355533.2:n.11402+6G>A
ENST00000659194.1:c.3579+6G>A
ENST00000660292.1:c.1422+6G>A
ENST00000360064.7:c.11354+6G>A	ENSP00000353174.7:n.11354+6G>A
ENST00000366574.6:c.11402+6G>A	ENSP00000355533.2:n.11402+6G>A
ENST00000609119.1:n.2597+6G>A
NM_001035.2:c.11402+6G>A	NP_001026.2:n.11402+6G>A
XM_006711802.2:c.11456+6G>A	XP_006711865.1:n.11456+6G>A
XM_006711803.2:c.11453+6G>A	XP_006711866.1:n.11453+6G>A
XM_006711804.2:c.11432+6G>A	XP_006711867.1:n.11432+6G>A
XM_006711805.2:c.11426+6G>A	XP_006711868.1:n.11426+6G>A
XM_006711806.2:c.11420+6G>A	XP_006711869.1:n.11420+6G>A
XM_006711807.2:c.11396+6G>A	XP_006711870.1:n.11396+6G>A
XM_006711808.2:c.11219+6G>A	XP_006711871.1:n.11219+6G>A
XM_006711810.2:c.11363+6G>A	XP_006711873.1:n.11363+6G>A
XM_006711802.3:c.11456+6G>A	XP_006711865.1:n.11456+6G>A
XM_006711803.3:c.11453+6G>A	XP_006711866.1:n.11453+6G>A
XM_006711804.3:c.11432+6G>A	XP_006711867.1:n.11432+6G>A
XM_006711805.3:c.11426+6G>A	XP_006711868.1:n.11426+6G>A
XM_006711806.3:c.11420+6G>A	XP_006711869.1:n.11420+6G>A
XM_006711807.3:c.11396+6G>A	XP_006711870.1:n.11396+6G>A
XM_006711808.3:c.11219+6G>A	XP_006711871.1:n.11219+6G>A
XM_006711810.3:c.11363+6G>A	XP_006711873.1:n.11363+6G>A
XM_017002028.1:c.11435+6G>A	XP_016857517.1:n.11435+6G>A
NM_001035.3:c.11402+6G>A MANE Select	NP_001026.2:n.11402+6G>A