Canonical Allele Identifier: CA345413567

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947546C>A (hg19) ; chr1:g.237784246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784246C>A , CM000663.2:g.237784246C>A	GRCh38
NC_000001.10:g.237947546C>A , CM000663.1:g.237947546C>A	GRCh37
NC_000001.9:g.236014169C>A	NCBI36
NG_008799.2:g.746845C>A
NG_008799.3:g.747063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3626C>A	ENSP00000499659.2:n.*3626C>A
ENST00000659194.3:c.12522C>A	ENSP00000499653.3:p.Asn4174Lys
ENST00000660292.2:c.12555C>A	ENSP00000499787.2:p.Asn4185Lys
ENST00000659194.2:c.4711C>A
ENST00000366574.7:c.12534C>A MANE Select	ENSP00000355533.2:p.Asn4178Lys
ENST00000659194.1:c.4711C>A
ENST00000660292.1:c.2587C>A
ENST00000360064.7:c.12486C>A	ENSP00000353174.7:p.Asn4162Lys
ENST00000366574.6:c.12534C>A	ENSP00000355533.2:p.Asn4178Lys
ENST00000609119.1:n.3729C>A
NM_001035.2:c.12534C>A	NP_001026.2:p.Asn4178Lys
XM_006711802.2:c.12588C>A	XP_006711865.1:p.Asn4196Lys
XM_006711803.2:c.12585C>A	XP_006711866.1:p.Asn4195Lys
XM_006711804.2:c.12564C>A	XP_006711867.1:p.Asn4188Lys
XM_006711805.2:c.12558C>A	XP_006711868.1:p.Asn4186Lys
XM_006711806.2:c.12552C>A	XP_006711869.1:p.Asn4184Lys
XM_006711807.2:c.12528C>A	XP_006711870.1:p.Asn4176Lys
XM_006711808.2:c.12351C>A	XP_006711871.1:p.Asn4117Lys
XM_006711810.2:c.12495C>A	XP_006711873.1:p.Asn4165Lys
XM_006711802.3:c.12588C>A	XP_006711865.1:p.Asn4196Lys
XM_006711803.3:c.12585C>A	XP_006711866.1:p.Asn4195Lys
XM_006711804.3:c.12564C>A	XP_006711867.1:p.Asn4188Lys
XM_006711805.3:c.12558C>A	XP_006711868.1:p.Asn4186Lys
XM_006711806.3:c.12552C>A	XP_006711869.1:p.Asn4184Lys
XM_006711807.3:c.12528C>A	XP_006711870.1:p.Asn4176Lys
XM_006711808.3:c.12351C>A	XP_006711871.1:p.Asn4117Lys
XM_006711810.3:c.12495C>A	XP_006711873.1:p.Asn4165Lys
XM_017002028.1:c.12567C>A	XP_016857517.1:p.Asn4189Lys
NM_001035.3:c.12534C>A MANE Select	NP_001026.2:p.Asn4178Lys