Canonical Allele Identifier: CA345403733

Gene: RYR2

Linked Data

• gnomAD v4: 1-237678107-G-A
• MyVariant Identifiers: chr1:g.237841407G>A (hg19) ; chr1:g.237678107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678107G>A , CM000663.2:g.237678107G>A	GRCh38
NC_000001.10:g.237841407G>A , CM000663.1:g.237841407G>A	GRCh37
NC_000001.9:g.235908030G>A	NCBI36
NG_008799.2:g.640706G>A
NG_008799.3:g.640924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2349G>A	ENSP00000499659.2:n.8831-2349G>A
ENST00000659194.3:c.8890G>A	ENSP00000499653.3:p.Ala2964Thr
ENST00000660292.2:c.8890G>A	ENSP00000499787.2:p.Ala2964Thr
ENST00000659194.2:c.1079G>A
ENST00000366574.7:c.8890G>A MANE Select	ENSP00000355533.2:p.Ala2964Thr
ENST00000659194.1:c.1079G>A
ENST00000360064.7:c.8842G>A	ENSP00000353174.7:p.Ala2948Thr
ENST00000366574.6:c.8890G>A	ENSP00000355533.2:p.Ala2964Thr
ENST00000609119.1:n.84-2349G>A
NM_001035.2:c.8890G>A	NP_001026.2:p.Ala2964Thr
XM_006711802.2:c.8920G>A	XP_006711865.1:p.Ala2974Thr
XM_006711803.2:c.8917G>A	XP_006711866.1:p.Ala2973Thr
XM_006711804.2:c.8920G>A	XP_006711867.1:p.Ala2974Thr
XM_006711805.2:c.8890G>A	XP_006711868.1:p.Ala2964Thr
XM_006711806.2:c.8920G>A	XP_006711869.1:p.Ala2974Thr
XM_006711807.2:c.8920G>A	XP_006711870.1:p.Ala2974Thr
XM_006711808.2:c.8860+3261G>A	XP_006711871.1:n.8860+3261G>A
XM_006711810.2:c.8887G>A	XP_006711873.1:p.Ala2963Thr
XR_949152.1:n.9201G>A
XM_006711802.3:c.8920G>A	XP_006711865.1:p.Ala2974Thr
XM_006711803.3:c.8917G>A	XP_006711866.1:p.Ala2973Thr
XM_006711804.3:c.8920G>A	XP_006711867.1:p.Ala2974Thr
XM_006711805.3:c.8890G>A	XP_006711868.1:p.Ala2964Thr
XM_006711806.3:c.8920G>A	XP_006711869.1:p.Ala2974Thr
XM_006711807.3:c.8920G>A	XP_006711870.1:p.Ala2974Thr
XM_006711808.3:c.8860+3261G>A	XP_006711871.1:n.8860+3261G>A
XM_006711810.3:c.8887G>A	XP_006711873.1:p.Ala2963Thr
XM_017002028.1:c.8899G>A	XP_016857517.1:p.Ala2967Thr
XR_949152.2:n.9234G>A
NM_001035.3:c.8890G>A MANE Select	NP_001026.2:p.Ala2964Thr