Canonical Allele Identifier: CA345424255

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972261A>G (hg19) ; chr1:g.237808961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808961A>G , CM000663.2:g.237808961A>G	GRCh38
NC_000001.10:g.237972261A>G , CM000663.1:g.237972261A>G	GRCh37
NC_000001.9:g.236038884A>G	NCBI36
NG_008799.2:g.771560A>G
NG_008799.3:g.771778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5451A>G	ENSP00000499659.2:n.*5451A>G
ENST00000659194.3:c.14341A>G	ENSP00000499653.3:p.Asn4781Asp
ENST00000660292.2:c.14380A>G	ENSP00000499787.2:p.Asn4794Asp
ENST00000659194.2:c.6530A>G
ENST00000366574.7:c.14359A>G MANE Select	ENSP00000355533.2:p.Asn4787Asp
ENST00000360064.7:c.14308A>G	ENSP00000353174.7:p.Asn4770Asp
ENST00000366574.6:c.14359A>G	ENSP00000355533.2:p.Asn4787Asp
ENST00000608590.5:n.870A>G
NM_001035.2:c.14359A>G	NP_001026.2:p.Asn4787Asp
XM_006711802.2:c.14413A>G	XP_006711865.1:p.Asn4805Asp
XM_006711803.2:c.14410A>G	XP_006711866.1:p.Asn4804Asp
XM_006711804.2:c.14389A>G	XP_006711867.1:p.Asn4797Asp
XM_006711805.2:c.14383A>G	XP_006711868.1:p.Asn4795Asp
XM_006711806.2:c.14377A>G	XP_006711869.1:p.Asn4793Asp
XM_006711807.2:c.14353A>G	XP_006711870.1:p.Asn4785Asp
XM_006711808.2:c.14176A>G	XP_006711871.1:p.Asn4726Asp
XM_006711810.2:c.14320A>G	XP_006711873.1:p.Asn4774Asp
XM_006711802.3:c.14413A>G	XP_006711865.1:p.Asn4805Asp
XM_006711803.3:c.14410A>G	XP_006711866.1:p.Asn4804Asp
XM_006711804.3:c.14389A>G	XP_006711867.1:p.Asn4797Asp
XM_006711805.3:c.14383A>G	XP_006711868.1:p.Asn4795Asp
XM_006711806.3:c.14377A>G	XP_006711869.1:p.Asn4793Asp
XM_006711807.3:c.14353A>G	XP_006711870.1:p.Asn4785Asp
XM_006711808.3:c.14176A>G	XP_006711871.1:p.Asn4726Asp
XM_006711810.3:c.14320A>G	XP_006711873.1:p.Asn4774Asp
XM_017002028.1:c.14392A>G	XP_016857517.1:p.Asn4798Asp
NM_001035.3:c.14359A>G MANE Select	NP_001026.2:p.Asn4787Asp