Canonical Allele Identifier: CA345413409

Gene: RYR2

Linked Data

• dbSNP Id: rs1202962809
• gnomAD v4: 1-237784184-A-G
• MyVariant Identifiers: chr1:g.237947484A>G (hg19) ; chr1:g.237784184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784184A>G , CM000663.2:g.237784184A>G	GRCh38
NC_000001.10:g.237947484A>G , CM000663.1:g.237947484A>G	GRCh37
NC_000001.9:g.236014107A>G	NCBI36
NG_008799.2:g.746783A>G
NG_008799.3:g.747001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3564A>G	ENSP00000499659.2:n.*3564A>G
ENST00000659194.3:c.12460A>G	ENSP00000499653.3:p.Thr4154Ala
ENST00000660292.2:c.12493A>G	ENSP00000499787.2:p.Thr4165Ala
ENST00000659194.2:c.4649A>G
ENST00000366574.7:c.12472A>G MANE Select	ENSP00000355533.2:p.Thr4158Ala
ENST00000659194.1:c.4649A>G
ENST00000660292.1:c.2525A>G
ENST00000360064.7:c.12424A>G	ENSP00000353174.7:p.Thr4142Ala
ENST00000366574.6:c.12472A>G	ENSP00000355533.2:p.Thr4158Ala
ENST00000609119.1:n.3667A>G
NM_001035.2:c.12472A>G	NP_001026.2:p.Thr4158Ala
XM_006711802.2:c.12526A>G	XP_006711865.1:p.Thr4176Ala
XM_006711803.2:c.12523A>G	XP_006711866.1:p.Thr4175Ala
XM_006711804.2:c.12502A>G	XP_006711867.1:p.Thr4168Ala
XM_006711805.2:c.12496A>G	XP_006711868.1:p.Thr4166Ala
XM_006711806.2:c.12490A>G	XP_006711869.1:p.Thr4164Ala
XM_006711807.2:c.12466A>G	XP_006711870.1:p.Thr4156Ala
XM_006711808.2:c.12289A>G	XP_006711871.1:p.Thr4097Ala
XM_006711810.2:c.12433A>G	XP_006711873.1:p.Thr4145Ala
XM_006711802.3:c.12526A>G	XP_006711865.1:p.Thr4176Ala
XM_006711803.3:c.12523A>G	XP_006711866.1:p.Thr4175Ala
XM_006711804.3:c.12502A>G	XP_006711867.1:p.Thr4168Ala
XM_006711805.3:c.12496A>G	XP_006711868.1:p.Thr4166Ala
XM_006711806.3:c.12490A>G	XP_006711869.1:p.Thr4164Ala
XM_006711807.3:c.12466A>G	XP_006711870.1:p.Thr4156Ala
XM_006711808.3:c.12289A>G	XP_006711871.1:p.Thr4097Ala
XM_006711810.3:c.12433A>G	XP_006711873.1:p.Thr4145Ala
XM_017002028.1:c.12505A>G	XP_016857517.1:p.Thr4169Ala
NM_001035.3:c.12472A>G MANE Select	NP_001026.2:p.Thr4158Ala