Canonical Allele Identifier: CA345424191

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972243T>G (hg19) ; chr1:g.237808943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808943T>G , CM000663.2:g.237808943T>G	GRCh38
NC_000001.10:g.237972243T>G , CM000663.1:g.237972243T>G	GRCh37
NC_000001.9:g.236038866T>G	NCBI36
NG_008799.2:g.771542T>G
NG_008799.3:g.771760T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5433T>G	ENSP00000499659.2:n.*5433T>G
ENST00000659194.3:c.14323T>G	ENSP00000499653.3:p.Tyr4775Asp
ENST00000660292.2:c.14362T>G	ENSP00000499787.2:p.Tyr4788Asp
ENST00000659194.2:c.6512T>G
ENST00000366574.7:c.14341T>G MANE Select	ENSP00000355533.2:p.Tyr4781Asp
ENST00000360064.7:c.14290T>G	ENSP00000353174.7:p.Tyr4764Asp
ENST00000366574.6:c.14341T>G	ENSP00000355533.2:p.Tyr4781Asp
ENST00000608590.5:n.852T>G
NM_001035.2:c.14341T>G	NP_001026.2:p.Tyr4781Asp
XM_006711802.2:c.14395T>G	XP_006711865.1:p.Tyr4799Asp
XM_006711803.2:c.14392T>G	XP_006711866.1:p.Tyr4798Asp
XM_006711804.2:c.14371T>G	XP_006711867.1:p.Tyr4791Asp
XM_006711805.2:c.14365T>G	XP_006711868.1:p.Tyr4789Asp
XM_006711806.2:c.14359T>G	XP_006711869.1:p.Tyr4787Asp
XM_006711807.2:c.14335T>G	XP_006711870.1:p.Tyr4779Asp
XM_006711808.2:c.14158T>G	XP_006711871.1:p.Tyr4720Asp
XM_006711810.2:c.14302T>G	XP_006711873.1:p.Tyr4768Asp
XM_006711802.3:c.14395T>G	XP_006711865.1:p.Tyr4799Asp
XM_006711803.3:c.14392T>G	XP_006711866.1:p.Tyr4798Asp
XM_006711804.3:c.14371T>G	XP_006711867.1:p.Tyr4791Asp
XM_006711805.3:c.14365T>G	XP_006711868.1:p.Tyr4789Asp
XM_006711806.3:c.14359T>G	XP_006711869.1:p.Tyr4787Asp
XM_006711807.3:c.14335T>G	XP_006711870.1:p.Tyr4779Asp
XM_006711808.3:c.14158T>G	XP_006711871.1:p.Tyr4720Asp
XM_006711810.3:c.14302T>G	XP_006711873.1:p.Tyr4768Asp
XM_017002028.1:c.14374T>G	XP_016857517.1:p.Tyr4792Asp
NM_001035.3:c.14341T>G MANE Select	NP_001026.2:p.Tyr4781Asp