Canonical Allele Identifier: CA345413644

Gene: RYR2

Linked Data

• ClinVar Variation Id: 580536
• ClinVar RCV Id: RCV002533701
• dbSNP Id: rs1308975705
• MyVariant Identifiers: chr1:g.237947580G>A (hg19) ; chr1:g.237784280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784280G>A , CM000663.2:g.237784280G>A	GRCh38
NC_000001.10:g.237947580G>A , CM000663.1:g.237947580G>A	GRCh37
NC_000001.9:g.236014203G>A	NCBI36
NG_008799.2:g.746879G>A
NG_008799.3:g.747097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3660G>A	ENSP00000499659.2:n.*3660G>A
ENST00000659194.3:c.12556G>A	ENSP00000499653.3:p.Val4186Met
ENST00000660292.2:c.12589G>A	ENSP00000499787.2:p.Val4197Met
ENST00000659194.2:c.4745G>A
ENST00000366574.7:c.12568G>A MANE Select	ENSP00000355533.2:p.Val4190Met
ENST00000659194.1:c.4745G>A
ENST00000660292.1:c.2621G>A
ENST00000360064.7:c.12520G>A	ENSP00000353174.7:p.Val4174Met
ENST00000366574.6:c.12568G>A	ENSP00000355533.2:p.Val4190Met
ENST00000609119.1:n.3763G>A
NM_001035.2:c.12568G>A	NP_001026.2:p.Val4190Met
XM_006711802.2:c.12622G>A	XP_006711865.1:p.Val4208Met
XM_006711803.2:c.12619G>A	XP_006711866.1:p.Val4207Met
XM_006711804.2:c.12598G>A	XP_006711867.1:p.Val4200Met
XM_006711805.2:c.12592G>A	XP_006711868.1:p.Val4198Met
XM_006711806.2:c.12586G>A	XP_006711869.1:p.Val4196Met
XM_006711807.2:c.12562G>A	XP_006711870.1:p.Val4188Met
XM_006711808.2:c.12385G>A	XP_006711871.1:p.Val4129Met
XM_006711810.2:c.12529G>A	XP_006711873.1:p.Val4177Met
XM_006711802.3:c.12622G>A	XP_006711865.1:p.Val4208Met
XM_006711803.3:c.12619G>A	XP_006711866.1:p.Val4207Met
XM_006711804.3:c.12598G>A	XP_006711867.1:p.Val4200Met
XM_006711805.3:c.12592G>A	XP_006711868.1:p.Val4198Met
XM_006711806.3:c.12586G>A	XP_006711869.1:p.Val4196Met
XM_006711807.3:c.12562G>A	XP_006711870.1:p.Val4188Met
XM_006711808.3:c.12385G>A	XP_006711871.1:p.Val4129Met
XM_006711810.3:c.12529G>A	XP_006711873.1:p.Val4177Met
XM_017002028.1:c.12601G>A	XP_016857517.1:p.Val4201Met
NM_001035.3:c.12568G>A MANE Select	NP_001026.2:p.Val4190Met