Canonical Allele Identifier: CA345406966

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237935321A>T (hg19) ; chr1:g.237772021A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772021A>T , CM000663.2:g.237772021A>T	GRCh38
NC_000001.10:g.237935321A>T , CM000663.1:g.237935321A>T	GRCh37
NC_000001.9:g.236001944A>T	NCBI36
NG_008799.2:g.734620A>T
NG_008799.3:g.734838A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2659A>T	ENSP00000499659.2:n.*2659A>T
ENST00000659194.3:c.11555A>T	ENSP00000499653.3:p.Asn3852Ile
ENST00000660292.2:c.11588A>T	ENSP00000499787.2:p.Asn3863Ile
ENST00000659194.2:c.3744A>T
ENST00000366574.7:c.11567A>T MANE Select	ENSP00000355533.2:p.Asn3856Ile
ENST00000659194.1:c.3744A>T
ENST00000660292.1:c.1620A>T
ENST00000360064.7:c.11519A>T	ENSP00000353174.7:p.Asn3840Ile
ENST00000366574.6:c.11567A>T	ENSP00000355533.2:p.Asn3856Ile
ENST00000609119.1:n.2762A>T
NM_001035.2:c.11567A>T	NP_001026.2:p.Asn3856Ile
XM_006711802.2:c.11621A>T	XP_006711865.1:p.Asn3874Ile
XM_006711803.2:c.11618A>T	XP_006711866.1:p.Asn3873Ile
XM_006711804.2:c.11597A>T	XP_006711867.1:p.Asn3866Ile
XM_006711805.2:c.11591A>T	XP_006711868.1:p.Asn3864Ile
XM_006711806.2:c.11585A>T	XP_006711869.1:p.Asn3862Ile
XM_006711807.2:c.11561A>T	XP_006711870.1:p.Asn3854Ile
XM_006711808.2:c.11384A>T	XP_006711871.1:p.Asn3795Ile
XM_006711810.2:c.11528A>T	XP_006711873.1:p.Asn3843Ile
XM_006711802.3:c.11621A>T	XP_006711865.1:p.Asn3874Ile
XM_006711803.3:c.11618A>T	XP_006711866.1:p.Asn3873Ile
XM_006711804.3:c.11597A>T	XP_006711867.1:p.Asn3866Ile
XM_006711805.3:c.11591A>T	XP_006711868.1:p.Asn3864Ile
XM_006711806.3:c.11585A>T	XP_006711869.1:p.Asn3862Ile
XM_006711807.3:c.11561A>T	XP_006711870.1:p.Asn3854Ile
XM_006711808.3:c.11384A>T	XP_006711871.1:p.Asn3795Ile
XM_006711810.3:c.11528A>T	XP_006711873.1:p.Asn3843Ile
XM_017002028.1:c.11600A>T	XP_016857517.1:p.Asn3867Ile
NM_001035.3:c.11567A>T MANE Select	NP_001026.2:p.Asn3856Ile