Canonical Allele Identifier: CA345409245

Gene: RYR2

Linked Data

• gnomAD v4: 1-237778714-G-A
• MyVariant Identifiers: chr1:g.237942014G>A (hg19) ; chr1:g.237778714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778714G>A , CM000663.2:g.237778714G>A	GRCh38
NC_000001.10:g.237942014G>A , CM000663.1:g.237942014G>A	GRCh37
NC_000001.9:g.236008637G>A	NCBI36
NG_008799.2:g.741313G>A
NG_008799.3:g.741531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2916G>A	ENSP00000499659.2:n.*2916G>A
ENST00000659194.3:c.11812G>A	ENSP00000499653.3:p.Asp3938Asn
ENST00000660292.2:c.11845G>A	ENSP00000499787.2:p.Asp3949Asn
ENST00000659194.2:c.4001G>A
ENST00000366574.7:c.11824G>A MANE Select	ENSP00000355533.2:p.Asp3942Asn
ENST00000659194.1:c.4001G>A
ENST00000660292.1:c.1877G>A
ENST00000360064.7:c.11776G>A	ENSP00000353174.7:p.Asp3926Asn
ENST00000366574.6:c.11824G>A	ENSP00000355533.2:p.Asp3942Asn
ENST00000609119.1:n.3019G>A
NM_001035.2:c.11824G>A	NP_001026.2:p.Asp3942Asn
XM_006711802.2:c.11878G>A	XP_006711865.1:p.Asp3960Asn
XM_006711803.2:c.11875G>A	XP_006711866.1:p.Asp3959Asn
XM_006711804.2:c.11854G>A	XP_006711867.1:p.Asp3952Asn
XM_006711805.2:c.11848G>A	XP_006711868.1:p.Asp3950Asn
XM_006711806.2:c.11842G>A	XP_006711869.1:p.Asp3948Asn
XM_006711807.2:c.11818G>A	XP_006711870.1:p.Asp3940Asn
XM_006711808.2:c.11641G>A	XP_006711871.1:p.Asp3881Asn
XM_006711810.2:c.11785G>A	XP_006711873.1:p.Asp3929Asn
XM_006711802.3:c.11878G>A	XP_006711865.1:p.Asp3960Asn
XM_006711803.3:c.11875G>A	XP_006711866.1:p.Asp3959Asn
XM_006711804.3:c.11854G>A	XP_006711867.1:p.Asp3952Asn
XM_006711805.3:c.11848G>A	XP_006711868.1:p.Asp3950Asn
XM_006711806.3:c.11842G>A	XP_006711869.1:p.Asp3948Asn
XM_006711807.3:c.11818G>A	XP_006711870.1:p.Asp3940Asn
XM_006711808.3:c.11641G>A	XP_006711871.1:p.Asp3881Asn
XM_006711810.3:c.11785G>A	XP_006711873.1:p.Asp3929Asn
XM_017002028.1:c.11857G>A	XP_016857517.1:p.Asp3953Asn
NM_001035.3:c.11824G>A MANE Select	NP_001026.2:p.Asp3942Asn