Canonical Allele Identifier: CA345413651

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947583A>T (hg19) ; chr1:g.237784283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784283A>T , CM000663.2:g.237784283A>T	GRCh38
NC_000001.10:g.237947583A>T , CM000663.1:g.237947583A>T	GRCh37
NC_000001.9:g.236014206A>T	NCBI36
NG_008799.2:g.746882A>T
NG_008799.3:g.747100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3663A>T	ENSP00000499659.2:n.*3663A>T
ENST00000659194.3:c.12559A>T	ENSP00000499653.3:p.Asn4187Tyr
ENST00000660292.2:c.12592A>T	ENSP00000499787.2:p.Asn4198Tyr
ENST00000659194.2:c.4748A>T
ENST00000366574.7:c.12571A>T MANE Select	ENSP00000355533.2:p.Asn4191Tyr
ENST00000659194.1:c.4748A>T
ENST00000660292.1:c.2624A>T
ENST00000360064.7:c.12523A>T	ENSP00000353174.7:p.Asn4175Tyr
ENST00000366574.6:c.12571A>T	ENSP00000355533.2:p.Asn4191Tyr
ENST00000609119.1:n.3766A>T
NM_001035.2:c.12571A>T	NP_001026.2:p.Asn4191Tyr
XM_006711802.2:c.12625A>T	XP_006711865.1:p.Asn4209Tyr
XM_006711803.2:c.12622A>T	XP_006711866.1:p.Asn4208Tyr
XM_006711804.2:c.12601A>T	XP_006711867.1:p.Asn4201Tyr
XM_006711805.2:c.12595A>T	XP_006711868.1:p.Asn4199Tyr
XM_006711806.2:c.12589A>T	XP_006711869.1:p.Asn4197Tyr
XM_006711807.2:c.12565A>T	XP_006711870.1:p.Asn4189Tyr
XM_006711808.2:c.12388A>T	XP_006711871.1:p.Asn4130Tyr
XM_006711810.2:c.12532A>T	XP_006711873.1:p.Asn4178Tyr
XM_006711802.3:c.12625A>T	XP_006711865.1:p.Asn4209Tyr
XM_006711803.3:c.12622A>T	XP_006711866.1:p.Asn4208Tyr
XM_006711804.3:c.12601A>T	XP_006711867.1:p.Asn4201Tyr
XM_006711805.3:c.12595A>T	XP_006711868.1:p.Asn4199Tyr
XM_006711806.3:c.12589A>T	XP_006711869.1:p.Asn4197Tyr
XM_006711807.3:c.12565A>T	XP_006711870.1:p.Asn4189Tyr
XM_006711808.3:c.12388A>T	XP_006711871.1:p.Asn4130Tyr
XM_006711810.3:c.12532A>T	XP_006711873.1:p.Asn4178Tyr
XM_017002028.1:c.12604A>T	XP_016857517.1:p.Asn4202Tyr
NM_001035.3:c.12571A>T MANE Select	NP_001026.2:p.Asn4191Tyr