Canonical Allele Identifier: CA345409175

Gene: RYR2

Linked Data

• COSMIC: COSM679850
• MyVariant Identifiers: chr1:g.237942003G>A (hg19) ; chr1:g.237778703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778703G>A , CM000663.2:g.237778703G>A	GRCh38
NC_000001.10:g.237942003G>A , CM000663.1:g.237942003G>A	GRCh37
NC_000001.9:g.236008626G>A	NCBI36
NG_008799.2:g.741302G>A
NG_008799.3:g.741520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2905G>A	ENSP00000499659.2:n.*2905G>A
ENST00000659194.3:c.11801G>A	ENSP00000499653.3:p.Ser3934Asn
ENST00000660292.2:c.11834G>A	ENSP00000499787.2:p.Ser3945Asn
ENST00000659194.2:c.3990G>A
ENST00000366574.7:c.11813G>A MANE Select	ENSP00000355533.2:p.Ser3938Asn
ENST00000659194.1:c.3990G>A
ENST00000660292.1:c.1866G>A
ENST00000360064.7:c.11765G>A	ENSP00000353174.7:p.Ser3922Asn
ENST00000366574.6:c.11813G>A	ENSP00000355533.2:p.Ser3938Asn
ENST00000609119.1:n.3008G>A
NM_001035.2:c.11813G>A	NP_001026.2:p.Ser3938Asn
XM_006711802.2:c.11867G>A	XP_006711865.1:p.Ser3956Asn
XM_006711803.2:c.11864G>A	XP_006711866.1:p.Ser3955Asn
XM_006711804.2:c.11843G>A	XP_006711867.1:p.Ser3948Asn
XM_006711805.2:c.11837G>A	XP_006711868.1:p.Ser3946Asn
XM_006711806.2:c.11831G>A	XP_006711869.1:p.Ser3944Asn
XM_006711807.2:c.11807G>A	XP_006711870.1:p.Ser3936Asn
XM_006711808.2:c.11630G>A	XP_006711871.1:p.Ser3877Asn
XM_006711810.2:c.11774G>A	XP_006711873.1:p.Ser3925Asn
XM_006711802.3:c.11867G>A	XP_006711865.1:p.Ser3956Asn
XM_006711803.3:c.11864G>A	XP_006711866.1:p.Ser3955Asn
XM_006711804.3:c.11843G>A	XP_006711867.1:p.Ser3948Asn
XM_006711805.3:c.11837G>A	XP_006711868.1:p.Ser3946Asn
XM_006711806.3:c.11831G>A	XP_006711869.1:p.Ser3944Asn
XM_006711807.3:c.11807G>A	XP_006711870.1:p.Ser3936Asn
XM_006711808.3:c.11630G>A	XP_006711871.1:p.Ser3877Asn
XM_006711810.3:c.11774G>A	XP_006711873.1:p.Ser3925Asn
XM_017002028.1:c.11846G>A	XP_016857517.1:p.Ser3949Asn
NM_001035.3:c.11813G>A MANE Select	NP_001026.2:p.Ser3938Asn