Canonical Allele Identifier: CA345413556

Gene: RYR2

Linked Data

• COSMIC: COSM2048989 ; COSM4234624
• MyVariant Identifiers: chr1:g.237947541G>A (hg19) ; chr1:g.237784241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784241G>A , CM000663.2:g.237784241G>A	GRCh38
NC_000001.10:g.237947541G>A , CM000663.1:g.237947541G>A	GRCh37
NC_000001.9:g.236014164G>A	NCBI36
NG_008799.2:g.746840G>A
NG_008799.3:g.747058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3621G>A	ENSP00000499659.2:n.*3621G>A
ENST00000659194.3:c.12517G>A	ENSP00000499653.3:p.Val4173Ile
ENST00000660292.2:c.12550G>A	ENSP00000499787.2:p.Val4184Ile
ENST00000659194.2:c.4706G>A
ENST00000366574.7:c.12529G>A MANE Select	ENSP00000355533.2:p.Val4177Ile
ENST00000659194.1:c.4706G>A
ENST00000660292.1:c.2582G>A
ENST00000360064.7:c.12481G>A	ENSP00000353174.7:p.Val4161Ile
ENST00000366574.6:c.12529G>A	ENSP00000355533.2:p.Val4177Ile
ENST00000609119.1:n.3724G>A
NM_001035.2:c.12529G>A	NP_001026.2:p.Val4177Ile
XM_006711802.2:c.12583G>A	XP_006711865.1:p.Val4195Ile
XM_006711803.2:c.12580G>A	XP_006711866.1:p.Val4194Ile
XM_006711804.2:c.12559G>A	XP_006711867.1:p.Val4187Ile
XM_006711805.2:c.12553G>A	XP_006711868.1:p.Val4185Ile
XM_006711806.2:c.12547G>A	XP_006711869.1:p.Val4183Ile
XM_006711807.2:c.12523G>A	XP_006711870.1:p.Val4175Ile
XM_006711808.2:c.12346G>A	XP_006711871.1:p.Val4116Ile
XM_006711810.2:c.12490G>A	XP_006711873.1:p.Val4164Ile
XM_006711802.3:c.12583G>A	XP_006711865.1:p.Val4195Ile
XM_006711803.3:c.12580G>A	XP_006711866.1:p.Val4194Ile
XM_006711804.3:c.12559G>A	XP_006711867.1:p.Val4187Ile
XM_006711805.3:c.12553G>A	XP_006711868.1:p.Val4185Ile
XM_006711806.3:c.12547G>A	XP_006711869.1:p.Val4183Ile
XM_006711807.3:c.12523G>A	XP_006711870.1:p.Val4175Ile
XM_006711808.3:c.12346G>A	XP_006711871.1:p.Val4116Ile
XM_006711810.3:c.12490G>A	XP_006711873.1:p.Val4164Ile
XM_017002028.1:c.12562G>A	XP_016857517.1:p.Val4188Ile
NM_001035.3:c.12529G>A MANE Select	NP_001026.2:p.Val4177Ile