Canonical Allele Identifier: CA345406961

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237935320A>T (hg19) ; chr1:g.237772020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772020A>T , CM000663.2:g.237772020A>T	GRCh38
NC_000001.10:g.237935320A>T , CM000663.1:g.237935320A>T	GRCh37
NC_000001.9:g.236001943A>T	NCBI36
NG_008799.2:g.734619A>T
NG_008799.3:g.734837A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2658A>T	ENSP00000499659.2:n.*2658A>T
ENST00000659194.3:c.11554A>T	ENSP00000499653.3:p.Asn3852Tyr
ENST00000660292.2:c.11587A>T	ENSP00000499787.2:p.Asn3863Tyr
ENST00000659194.2:c.3743A>T
ENST00000366574.7:c.11566A>T MANE Select	ENSP00000355533.2:p.Asn3856Tyr
ENST00000659194.1:c.3743A>T
ENST00000660292.1:c.1619A>T
ENST00000360064.7:c.11518A>T	ENSP00000353174.7:p.Asn3840Tyr
ENST00000366574.6:c.11566A>T	ENSP00000355533.2:p.Asn3856Tyr
ENST00000609119.1:n.2761A>T
NM_001035.2:c.11566A>T	NP_001026.2:p.Asn3856Tyr
XM_006711802.2:c.11620A>T	XP_006711865.1:p.Asn3874Tyr
XM_006711803.2:c.11617A>T	XP_006711866.1:p.Asn3873Tyr
XM_006711804.2:c.11596A>T	XP_006711867.1:p.Asn3866Tyr
XM_006711805.2:c.11590A>T	XP_006711868.1:p.Asn3864Tyr
XM_006711806.2:c.11584A>T	XP_006711869.1:p.Asn3862Tyr
XM_006711807.2:c.11560A>T	XP_006711870.1:p.Asn3854Tyr
XM_006711808.2:c.11383A>T	XP_006711871.1:p.Asn3795Tyr
XM_006711810.2:c.11527A>T	XP_006711873.1:p.Asn3843Tyr
XM_006711802.3:c.11620A>T	XP_006711865.1:p.Asn3874Tyr
XM_006711803.3:c.11617A>T	XP_006711866.1:p.Asn3873Tyr
XM_006711804.3:c.11596A>T	XP_006711867.1:p.Asn3866Tyr
XM_006711805.3:c.11590A>T	XP_006711868.1:p.Asn3864Tyr
XM_006711806.3:c.11584A>T	XP_006711869.1:p.Asn3862Tyr
XM_006711807.3:c.11560A>T	XP_006711870.1:p.Asn3854Tyr
XM_006711808.3:c.11383A>T	XP_006711871.1:p.Asn3795Tyr
XM_006711810.3:c.11527A>T	XP_006711873.1:p.Asn3843Tyr
XM_017002028.1:c.11599A>T	XP_016857517.1:p.Asn3867Tyr
NM_001035.3:c.11566A>T MANE Select	NP_001026.2:p.Asn3856Tyr