Canonical Allele Identifier: CA345413688

Gene: RYR2

Linked Data

• dbSNP Id: rs1174371313
• MyVariant Identifiers: chr1:g.237947598A>G (hg19) ; chr1:g.237784298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784298A>G , CM000663.2:g.237784298A>G	GRCh38
NC_000001.10:g.237947598A>G , CM000663.1:g.237947598A>G	GRCh37
NC_000001.9:g.236014221A>G	NCBI36
NG_008799.2:g.746897A>G
NG_008799.3:g.747115A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3678A>G	ENSP00000499659.2:n.*3678A>G
ENST00000659194.3:c.12574A>G	ENSP00000499653.3:p.Thr4192Ala
ENST00000660292.2:c.12607A>G	ENSP00000499787.2:p.Thr4203Ala
ENST00000659194.2:c.4763A>G
ENST00000366574.7:c.12586A>G MANE Select	ENSP00000355533.2:p.Thr4196Ala
ENST00000659194.1:c.4763A>G
ENST00000660292.1:c.2639A>G
ENST00000360064.7:c.12538A>G	ENSP00000353174.7:p.Thr4180Ala
ENST00000366574.6:c.12586A>G	ENSP00000355533.2:p.Thr4196Ala
ENST00000609119.1:n.3781A>G
NM_001035.2:c.12586A>G	NP_001026.2:p.Thr4196Ala
XM_006711802.2:c.12640A>G	XP_006711865.1:p.Thr4214Ala
XM_006711803.2:c.12637A>G	XP_006711866.1:p.Thr4213Ala
XM_006711804.2:c.12616A>G	XP_006711867.1:p.Thr4206Ala
XM_006711805.2:c.12610A>G	XP_006711868.1:p.Thr4204Ala
XM_006711806.2:c.12604A>G	XP_006711869.1:p.Thr4202Ala
XM_006711807.2:c.12580A>G	XP_006711870.1:p.Thr4194Ala
XM_006711808.2:c.12403A>G	XP_006711871.1:p.Thr4135Ala
XM_006711810.2:c.12547A>G	XP_006711873.1:p.Thr4183Ala
XM_006711802.3:c.12640A>G	XP_006711865.1:p.Thr4214Ala
XM_006711803.3:c.12637A>G	XP_006711866.1:p.Thr4213Ala
XM_006711804.3:c.12616A>G	XP_006711867.1:p.Thr4206Ala
XM_006711805.3:c.12610A>G	XP_006711868.1:p.Thr4204Ala
XM_006711806.3:c.12604A>G	XP_006711869.1:p.Thr4202Ala
XM_006711807.3:c.12580A>G	XP_006711870.1:p.Thr4194Ala
XM_006711808.3:c.12403A>G	XP_006711871.1:p.Thr4135Ala
XM_006711810.3:c.12547A>G	XP_006711873.1:p.Thr4183Ala
XM_017002028.1:c.12619A>G	XP_016857517.1:p.Thr4207Ala
NM_001035.3:c.12586A>G MANE Select	NP_001026.2:p.Thr4196Ala