Canonical Allele Identifier: CA345413001

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947350C>A (hg19) ; chr1:g.237784050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784050C>A , CM000663.2:g.237784050C>A	GRCh38
NC_000001.10:g.237947350C>A , CM000663.1:g.237947350C>A	GRCh37
NC_000001.9:g.236013973C>A	NCBI36
NG_008799.2:g.746649C>A
NG_008799.3:g.746867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3430C>A	ENSP00000499659.2:n.*3430C>A
ENST00000659194.3:c.12326C>A	ENSP00000499653.3:p.Thr4109Asn
ENST00000660292.2:c.12359C>A	ENSP00000499787.2:p.Thr4120Asn
ENST00000659194.2:c.4515C>A
ENST00000366574.7:c.12338C>A MANE Select	ENSP00000355533.2:p.Thr4113Asn
ENST00000659194.1:c.4515C>A
ENST00000660292.1:c.2391C>A
ENST00000360064.7:c.12290C>A	ENSP00000353174.7:p.Thr4097Asn
ENST00000366574.6:c.12338C>A	ENSP00000355533.2:p.Thr4113Asn
ENST00000609119.1:n.3533C>A
NM_001035.2:c.12338C>A	NP_001026.2:p.Thr4113Asn
XM_006711802.2:c.12392C>A	XP_006711865.1:p.Thr4131Asn
XM_006711803.2:c.12389C>A	XP_006711866.1:p.Thr4130Asn
XM_006711804.2:c.12368C>A	XP_006711867.1:p.Thr4123Asn
XM_006711805.2:c.12362C>A	XP_006711868.1:p.Thr4121Asn
XM_006711806.2:c.12356C>A	XP_006711869.1:p.Thr4119Asn
XM_006711807.2:c.12332C>A	XP_006711870.1:p.Thr4111Asn
XM_006711808.2:c.12155C>A	XP_006711871.1:p.Thr4052Asn
XM_006711810.2:c.12299C>A	XP_006711873.1:p.Thr4100Asn
XM_006711802.3:c.12392C>A	XP_006711865.1:p.Thr4131Asn
XM_006711803.3:c.12389C>A	XP_006711866.1:p.Thr4130Asn
XM_006711804.3:c.12368C>A	XP_006711867.1:p.Thr4123Asn
XM_006711805.3:c.12362C>A	XP_006711868.1:p.Thr4121Asn
XM_006711806.3:c.12356C>A	XP_006711869.1:p.Thr4119Asn
XM_006711807.3:c.12332C>A	XP_006711870.1:p.Thr4111Asn
XM_006711808.3:c.12155C>A	XP_006711871.1:p.Thr4052Asn
XM_006711810.3:c.12299C>A	XP_006711873.1:p.Thr4100Asn
XM_017002028.1:c.12371C>A	XP_016857517.1:p.Thr4124Asn
NM_001035.3:c.12338C>A MANE Select	NP_001026.2:p.Thr4113Asn