Canonical Allele Identifier: CA345413090

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947393T>A (hg19) ; chr1:g.237784093T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784093T>A , CM000663.2:g.237784093T>A	GRCh38
NC_000001.10:g.237947393T>A , CM000663.1:g.237947393T>A	GRCh37
NC_000001.9:g.236014016T>A	NCBI36
NG_008799.2:g.746692T>A
NG_008799.3:g.746910T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3473T>A	ENSP00000499659.2:n.*3473T>A
ENST00000659194.3:c.12369T>A	ENSP00000499653.3:p.Asn4123Lys
ENST00000660292.2:c.12402T>A	ENSP00000499787.2:p.Asn4134Lys
ENST00000659194.2:c.4558T>A
ENST00000366574.7:c.12381T>A MANE Select	ENSP00000355533.2:p.Asn4127Lys
ENST00000659194.1:c.4558T>A
ENST00000660292.1:c.2434T>A
ENST00000360064.7:c.12333T>A	ENSP00000353174.7:p.Asn4111Lys
ENST00000366574.6:c.12381T>A	ENSP00000355533.2:p.Asn4127Lys
ENST00000609119.1:n.3576T>A
NM_001035.2:c.12381T>A	NP_001026.2:p.Asn4127Lys
XM_006711802.2:c.12435T>A	XP_006711865.1:p.Asn4145Lys
XM_006711803.2:c.12432T>A	XP_006711866.1:p.Asn4144Lys
XM_006711804.2:c.12411T>A	XP_006711867.1:p.Asn4137Lys
XM_006711805.2:c.12405T>A	XP_006711868.1:p.Asn4135Lys
XM_006711806.2:c.12399T>A	XP_006711869.1:p.Asn4133Lys
XM_006711807.2:c.12375T>A	XP_006711870.1:p.Asn4125Lys
XM_006711808.2:c.12198T>A	XP_006711871.1:p.Asn4066Lys
XM_006711810.2:c.12342T>A	XP_006711873.1:p.Asn4114Lys
XM_006711802.3:c.12435T>A	XP_006711865.1:p.Asn4145Lys
XM_006711803.3:c.12432T>A	XP_006711866.1:p.Asn4144Lys
XM_006711804.3:c.12411T>A	XP_006711867.1:p.Asn4137Lys
XM_006711805.3:c.12405T>A	XP_006711868.1:p.Asn4135Lys
XM_006711806.3:c.12399T>A	XP_006711869.1:p.Asn4133Lys
XM_006711807.3:c.12375T>A	XP_006711870.1:p.Asn4125Lys
XM_006711808.3:c.12198T>A	XP_006711871.1:p.Asn4066Lys
XM_006711810.3:c.12342T>A	XP_006711873.1:p.Asn4114Lys
XM_017002028.1:c.12414T>A	XP_016857517.1:p.Asn4138Lys
NM_001035.3:c.12381T>A MANE Select	NP_001026.2:p.Asn4127Lys