Canonical Allele Identifier: CA345411323

Gene: RYR2

Linked Data

• gnomAD v4: 1-237627974-T-G
• MyVariant Identifiers: chr1:g.237791274T>G (hg19) ; chr1:g.237627974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627974T>G , CM000663.2:g.237627974T>G	GRCh38
NC_000001.10:g.237791274T>G , CM000663.1:g.237791274T>G	GRCh37
NC_000001.9:g.235857897T>G	NCBI36
NG_008799.2:g.590573T>G
NG_008799.3:g.590791T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6334T>G	ENSP00000499659.2:p.Ser2112Ala
ENST00000659194.3:c.6334T>G	ENSP00000499653.3:p.Ser2112Ala
ENST00000660292.2:c.6334T>G	ENSP00000499787.2:p.Ser2112Ala
ENST00000366574.7:c.6334T>G MANE Select	ENSP00000355533.2:p.Ser2112Ala
ENST00000360064.7:c.6286T>G	ENSP00000353174.7:p.Ser2096Ala
ENST00000366574.6:c.6334T>G	ENSP00000355533.2:p.Ser2112Ala
NM_001035.2:c.6334T>G	NP_001026.2:p.Ser2112Ala
XM_006711802.2:c.6364T>G	XP_006711865.1:p.Ser2122Ala
XM_006711803.2:c.6361T>G	XP_006711866.1:p.Ser2121Ala
XM_006711804.2:c.6364T>G	XP_006711867.1:p.Ser2122Ala
XM_006711805.2:c.6334T>G	XP_006711868.1:p.Ser2112Ala
XM_006711806.2:c.6364T>G	XP_006711869.1:p.Ser2122Ala
XM_006711807.2:c.6364T>G	XP_006711870.1:p.Ser2122Ala
XM_006711808.2:c.6364T>G	XP_006711871.1:p.Ser2122Ala
XM_006711809.2:c.6364T>G	XP_006711872.1:p.Ser2122Ala
XM_006711810.2:c.6331T>G	XP_006711873.1:p.Ser2111Ala
XR_949152.1:n.6645T>G
XM_006711802.3:c.6364T>G	XP_006711865.1:p.Ser2122Ala
XM_006711803.3:c.6361T>G	XP_006711866.1:p.Ser2121Ala
XM_006711804.3:c.6364T>G	XP_006711867.1:p.Ser2122Ala
XM_006711805.3:c.6334T>G	XP_006711868.1:p.Ser2112Ala
XM_006711806.3:c.6364T>G	XP_006711869.1:p.Ser2122Ala
XM_006711807.3:c.6364T>G	XP_006711870.1:p.Ser2122Ala
XM_006711808.3:c.6364T>G	XP_006711871.1:p.Ser2122Ala
XM_006711810.3:c.6331T>G	XP_006711873.1:p.Ser2111Ala
XM_017002028.1:c.6343T>G	XP_016857517.1:p.Ser2115Ala
XR_002957299.1:n.6678T>G
XR_949152.2:n.6678T>G
NM_001035.3:c.6334T>G MANE Select	NP_001026.2:p.Ser2112Ala