Canonical Allele Identifier: CA345413089

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947392A>T (hg19) ; chr1:g.237784092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784092A>T , CM000663.2:g.237784092A>T	GRCh38
NC_000001.10:g.237947392A>T , CM000663.1:g.237947392A>T	GRCh37
NC_000001.9:g.236014015A>T	NCBI36
NG_008799.2:g.746691A>T
NG_008799.3:g.746909A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3472A>T	ENSP00000499659.2:n.*3472A>T
ENST00000659194.3:c.12368A>T	ENSP00000499653.3:p.Asn4123Ile
ENST00000660292.2:c.12401A>T	ENSP00000499787.2:p.Asn4134Ile
ENST00000659194.2:c.4557A>T
ENST00000366574.7:c.12380A>T MANE Select	ENSP00000355533.2:p.Asn4127Ile
ENST00000659194.1:c.4557A>T
ENST00000660292.1:c.2433A>T
ENST00000360064.7:c.12332A>T	ENSP00000353174.7:p.Asn4111Ile
ENST00000366574.6:c.12380A>T	ENSP00000355533.2:p.Asn4127Ile
ENST00000609119.1:n.3575A>T
NM_001035.2:c.12380A>T	NP_001026.2:p.Asn4127Ile
XM_006711802.2:c.12434A>T	XP_006711865.1:p.Asn4145Ile
XM_006711803.2:c.12431A>T	XP_006711866.1:p.Asn4144Ile
XM_006711804.2:c.12410A>T	XP_006711867.1:p.Asn4137Ile
XM_006711805.2:c.12404A>T	XP_006711868.1:p.Asn4135Ile
XM_006711806.2:c.12398A>T	XP_006711869.1:p.Asn4133Ile
XM_006711807.2:c.12374A>T	XP_006711870.1:p.Asn4125Ile
XM_006711808.2:c.12197A>T	XP_006711871.1:p.Asn4066Ile
XM_006711810.2:c.12341A>T	XP_006711873.1:p.Asn4114Ile
XM_006711802.3:c.12434A>T	XP_006711865.1:p.Asn4145Ile
XM_006711803.3:c.12431A>T	XP_006711866.1:p.Asn4144Ile
XM_006711804.3:c.12410A>T	XP_006711867.1:p.Asn4137Ile
XM_006711805.3:c.12404A>T	XP_006711868.1:p.Asn4135Ile
XM_006711806.3:c.12398A>T	XP_006711869.1:p.Asn4133Ile
XM_006711807.3:c.12374A>T	XP_006711870.1:p.Asn4125Ile
XM_006711808.3:c.12197A>T	XP_006711871.1:p.Asn4066Ile
XM_006711810.3:c.12341A>T	XP_006711873.1:p.Asn4114Ile
XM_017002028.1:c.12413A>T	XP_016857517.1:p.Asn4138Ile
NM_001035.3:c.12380A>T MANE Select	NP_001026.2:p.Asn4127Ile