Canonical Allele Identifier: CA085539

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1771607
• ClinVar RCV Id: RCV002389084
• dbSNP Id: rs121918604
• ExAC: 1:237961337 G / A
• gnomAD v2: 1-237961337-G-A
• gnomAD v3: 1-237798037-G-A
• gnomAD v4: 1-237798037-G-A
• MyVariant Identifiers: chr1:g.237961337G>A (hg19) ; chr1:g.237798037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798037G>A , CM000663.2:g.237798037G>A	GRCh38
NC_000001.10:g.237961337G>A , CM000663.1:g.237961337G>A	GRCh37
NC_000001.9:g.236027960G>A	NCBI36
NG_008799.2:g.760636G>A
NG_008799.3:g.760854G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5049G>A	ENSP00000499659.2:n.*5049G>A
ENST00000659194.3:c.13939G>A	ENSP00000499653.3:p.Val4647Ile
ENST00000660292.2:c.13978G>A	ENSP00000499787.2:p.Val4660Ile
ENST00000659194.2:c.6128G>A
ENST00000366574.7:c.13957G>A MANE Select	ENSP00000355533.2:p.Val4653Ile
ENST00000360064.7:c.13906G>A	ENSP00000353174.7:p.Val4636Ile
ENST00000366574.6:c.13957G>A	ENSP00000355533.2:p.Val4653Ile
ENST00000608590.5:n.468G>A
NM_001035.2:c.13957G>A	NP_001026.2:p.Val4653Ile
XM_006711802.2:c.14011G>A	XP_006711865.1:p.Val4671Ile
XM_006711803.2:c.14008G>A	XP_006711866.1:p.Val4670Ile
XM_006711804.2:c.13987G>A	XP_006711867.1:p.Val4663Ile
XM_006711805.2:c.13981G>A	XP_006711868.1:p.Val4661Ile
XM_006711806.2:c.13975G>A	XP_006711869.1:p.Val4659Ile
XM_006711807.2:c.13951G>A	XP_006711870.1:p.Val4651Ile
XM_006711808.2:c.13774G>A	XP_006711871.1:p.Val4592Ile
XM_006711810.2:c.13918G>A	XP_006711873.1:p.Val4640Ile
XM_006711802.3:c.14011G>A	XP_006711865.1:p.Val4671Ile
XM_006711803.3:c.14008G>A	XP_006711866.1:p.Val4670Ile
XM_006711804.3:c.13987G>A	XP_006711867.1:p.Val4663Ile
XM_006711805.3:c.13981G>A	XP_006711868.1:p.Val4661Ile
XM_006711806.3:c.13975G>A	XP_006711869.1:p.Val4659Ile
XM_006711807.3:c.13951G>A	XP_006711870.1:p.Val4651Ile
XM_006711808.3:c.13774G>A	XP_006711871.1:p.Val4592Ile
XM_006711810.3:c.13918G>A	XP_006711873.1:p.Val4640Ile
XM_017002028.1:c.13990G>A	XP_016857517.1:p.Val4664Ile
NM_001035.3:c.13957G>A MANE Select	NP_001026.2:p.Val4653Ile