Canonical Allele Identifier: CA345413148

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947419T>A (hg19) ; chr1:g.237784119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784119T>A , CM000663.2:g.237784119T>A	GRCh38
NC_000001.10:g.237947419T>A , CM000663.1:g.237947419T>A	GRCh37
NC_000001.9:g.236014042T>A	NCBI36
NG_008799.2:g.746718T>A
NG_008799.3:g.746936T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3499T>A	ENSP00000499659.2:n.*3499T>A
ENST00000659194.3:c.12395T>A	ENSP00000499653.3:p.Ile4132Asn
ENST00000660292.2:c.12428T>A	ENSP00000499787.2:p.Ile4143Asn
ENST00000659194.2:c.4584T>A
ENST00000366574.7:c.12407T>A MANE Select	ENSP00000355533.2:p.Ile4136Asn
ENST00000659194.1:c.4584T>A
ENST00000660292.1:c.2460T>A
ENST00000360064.7:c.12359T>A	ENSP00000353174.7:p.Ile4120Asn
ENST00000366574.6:c.12407T>A	ENSP00000355533.2:p.Ile4136Asn
ENST00000609119.1:n.3602T>A
NM_001035.2:c.12407T>A	NP_001026.2:p.Ile4136Asn
XM_006711802.2:c.12461T>A	XP_006711865.1:p.Ile4154Asn
XM_006711803.2:c.12458T>A	XP_006711866.1:p.Ile4153Asn
XM_006711804.2:c.12437T>A	XP_006711867.1:p.Ile4146Asn
XM_006711805.2:c.12431T>A	XP_006711868.1:p.Ile4144Asn
XM_006711806.2:c.12425T>A	XP_006711869.1:p.Ile4142Asn
XM_006711807.2:c.12401T>A	XP_006711870.1:p.Ile4134Asn
XM_006711808.2:c.12224T>A	XP_006711871.1:p.Ile4075Asn
XM_006711810.2:c.12368T>A	XP_006711873.1:p.Ile4123Asn
XM_006711802.3:c.12461T>A	XP_006711865.1:p.Ile4154Asn
XM_006711803.3:c.12458T>A	XP_006711866.1:p.Ile4153Asn
XM_006711804.3:c.12437T>A	XP_006711867.1:p.Ile4146Asn
XM_006711805.3:c.12431T>A	XP_006711868.1:p.Ile4144Asn
XM_006711806.3:c.12425T>A	XP_006711869.1:p.Ile4142Asn
XM_006711807.3:c.12401T>A	XP_006711870.1:p.Ile4134Asn
XM_006711808.3:c.12224T>A	XP_006711871.1:p.Ile4075Asn
XM_006711810.3:c.12368T>A	XP_006711873.1:p.Ile4123Asn
XM_017002028.1:c.12440T>A	XP_016857517.1:p.Ile4147Asn
NM_001035.3:c.12407T>A MANE Select	NP_001026.2:p.Ile4136Asn