Canonical Allele Identifier: CA084805

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.237756339G>A , CM000663.2:g.237756339G>A	GRCh38
NC_000001.10:g.237919639G>A , CM000663.1:g.237919639G>A	GRCh37
NC_000001.9:g.235986262G>A	NCBI36
NG_008799.2:g.718938G>A
NG_008799.3:g.719156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2289G>A	ENSP00000499659.2:n.*2289G>A
ENST00000659194.3:c.11185G>A	ENSP00000499653.3:p.Asp3729Asn
ENST00000660292.2:c.11185G>A	ENSP00000499787.2:p.Asp3729Asn
ENST00000659194.2:c.3374G>A
ENST00000366574.7:c.11197G>A MANE Select	ENSP00000355533.2:p.Asp3733Asn
ENST00000659194.1:c.3374G>A
ENST00000660292.1:c.1217G>A
ENST00000360064.7:c.11149G>A	ENSP00000353174.7:p.Asp3717Asn
ENST00000366574.6:c.11197G>A	ENSP00000355533.2:p.Asp3733Asn
ENST00000609119.1:n.2392G>A
NM_001035.2:c.11197G>A	NP_001026.2:p.Asp3733Asn
XM_006711802.2:c.11251G>A	XP_006711865.1:p.Asp3751Asn
XM_006711803.2:c.11248G>A	XP_006711866.1:p.Asp3750Asn
XM_006711804.2:c.11227G>A	XP_006711867.1:p.Asp3743Asn
XM_006711805.2:c.11221G>A	XP_006711868.1:p.Asp3741Asn
XM_006711806.2:c.11215G>A	XP_006711869.1:p.Asp3739Asn
XM_006711807.2:c.11191G>A	XP_006711870.1:p.Asp3731Asn
XM_006711808.2:c.11014G>A	XP_006711871.1:p.Asp3672Asn
XM_006711810.2:c.11158G>A	XP_006711873.1:p.Asp3720Asn
XM_006711802.3:c.11251G>A	XP_006711865.1:p.Asp3751Asn
XM_006711803.3:c.11248G>A	XP_006711866.1:p.Asp3750Asn
XM_006711804.3:c.11227G>A	XP_006711867.1:p.Asp3743Asn
XM_006711805.3:c.11221G>A	XP_006711868.1:p.Asp3741Asn
XM_006711806.3:c.11215G>A	XP_006711869.1:p.Asp3739Asn
XM_006711807.3:c.11191G>A	XP_006711870.1:p.Asp3731Asn
XM_006711808.3:c.11014G>A	XP_006711871.1:p.Asp3672Asn
XM_006711810.3:c.11158G>A	XP_006711873.1:p.Asp3720Asn
XM_017002028.1:c.11230G>A	XP_016857517.1:p.Asp3744Asn
NM_001035.3:c.11197G>A MANE Select	NP_001026.2:p.Asp3733Asn