Canonical Allele Identifier: CA084994

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770902G>A , CM000663.2:g.237770902G>A	GRCh38
NC_000001.10:g.237934202G>A , CM000663.1:g.237934202G>A	GRCh37
NC_000001.9:g.236000825G>A	NCBI36
NG_008799.2:g.733501G>A
NG_008799.3:g.733719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2649+15G>A	ENSP00000499659.2:n.*2649+15G>A
ENST00000659194.3:c.11545+15G>A	ENSP00000499653.3:n.11545+15G>A
ENST00000660292.2:c.11578+15G>A	ENSP00000499787.2:n.11578+15G>A
ENST00000659194.2:c.3734+15G>A
ENST00000366574.7:c.11557+15G>A MANE Select	ENSP00000355533.2:n.11557+15G>A
ENST00000659194.1:c.3734+15G>A
ENST00000660292.1:c.1610+15G>A
ENST00000360064.7:c.11509+15G>A	ENSP00000353174.7:n.11509+15G>A
ENST00000366574.6:c.11557+15G>A	ENSP00000355533.2:n.11557+15G>A
ENST00000609119.1:n.2752+15G>A
NM_001035.2:c.11557+15G>A	NP_001026.2:n.11557+15G>A
XM_006711802.2:c.11611+15G>A	XP_006711865.1:n.11611+15G>A
XM_006711803.2:c.11608+15G>A	XP_006711866.1:n.11608+15G>A
XM_006711804.2:c.11587+15G>A	XP_006711867.1:n.11587+15G>A
XM_006711805.2:c.11581+15G>A	XP_006711868.1:n.11581+15G>A
XM_006711806.2:c.11575+15G>A	XP_006711869.1:n.11575+15G>A
XM_006711807.2:c.11551+15G>A	XP_006711870.1:n.11551+15G>A
XM_006711808.2:c.11374+15G>A	XP_006711871.1:n.11374+15G>A
XM_006711810.2:c.11518+15G>A	XP_006711873.1:n.11518+15G>A
XM_006711802.3:c.11611+15G>A	XP_006711865.1:n.11611+15G>A
XM_006711803.3:c.11608+15G>A	XP_006711866.1:n.11608+15G>A
XM_006711804.3:c.11587+15G>A	XP_006711867.1:n.11587+15G>A
XM_006711805.3:c.11581+15G>A	XP_006711868.1:n.11581+15G>A
XM_006711806.3:c.11575+15G>A	XP_006711869.1:n.11575+15G>A
XM_006711807.3:c.11551+15G>A	XP_006711870.1:n.11551+15G>A
XM_006711808.3:c.11374+15G>A	XP_006711871.1:n.11374+15G>A
XM_006711810.3:c.11518+15G>A	XP_006711873.1:n.11518+15G>A
XM_017002028.1:c.11590+15G>A	XP_016857517.1:n.11590+15G>A
NM_001035.3:c.11557+15G>A MANE Select	NP_001026.2:n.11557+15G>A