Canonical Allele Identifier: CA39821251

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237742320G>A , CM000663.2:g.237742320G>A	GRCh38
NC_000001.10:g.237905620G>A , CM000663.1:g.237905620G>A	GRCh37
NC_000001.9:g.235972243G>A	NCBI36
NG_008799.2:g.704919G>A
NG_008799.3:g.705137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2151G>A	ENSP00000499659.2:n.*2151G>A
ENST00000659194.3:c.11080G>A	ENSP00000499653.3:p.Asp3694Asn
ENST00000660292.2:c.11080G>A	ENSP00000499787.2:p.Asp3694Asn
ENST00000659194.2:c.3269G>A
ENST00000366574.7:c.11116G>A MANE Select	ENSP00000355533.2:p.Asp3706Asn
ENST00000659194.1:c.3269G>A
ENST00000660292.1:c.1112G>A
ENST00000661330.1:c.923G>A
ENST00000360064.7:c.11068G>A	ENSP00000353174.7:p.Asp3690Asn
ENST00000366574.6:c.11116G>A	ENSP00000355533.2:p.Asp3706Asn
ENST00000609119.1:n.2254G>A
NM_001035.2:c.11116G>A	NP_001026.2:p.Asp3706Asn
XM_006711802.2:c.11146G>A	XP_006711865.1:p.Asp3716Asn
XM_006711803.2:c.11143G>A	XP_006711866.1:p.Asp3715Asn
XM_006711804.2:c.11146G>A	XP_006711867.1:p.Asp3716Asn
XM_006711805.2:c.11116G>A	XP_006711868.1:p.Asp3706Asn
XM_006711806.2:c.11110G>A	XP_006711869.1:p.Asp3704Asn
XM_006711807.2:c.11110G>A	XP_006711870.1:p.Asp3704Asn
XM_006711808.2:c.10909G>A	XP_006711871.1:p.Asp3637Asn
XM_006711810.2:c.11077G>A	XP_006711873.1:p.Asp3693Asn
XM_006711802.3:c.11146G>A	XP_006711865.1:p.Asp3716Asn
XM_006711803.3:c.11143G>A	XP_006711866.1:p.Asp3715Asn
XM_006711804.3:c.11146G>A	XP_006711867.1:p.Asp3716Asn
XM_006711805.3:c.11116G>A	XP_006711868.1:p.Asp3706Asn
XM_006711806.3:c.11110G>A	XP_006711869.1:p.Asp3704Asn
XM_006711807.3:c.11110G>A	XP_006711870.1:p.Asp3704Asn
XM_006711808.3:c.10909G>A	XP_006711871.1:p.Asp3637Asn
XM_006711810.3:c.11077G>A	XP_006711873.1:p.Asp3693Asn
XM_017002028.1:c.11125G>A	XP_016857517.1:p.Asp3709Asn
NM_001035.3:c.11116G>A MANE Select	NP_001026.2:p.Asp3706Asn