Canonical Allele Identifier: CA345413500

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947519A>C (hg19) ; chr1:g.237784219A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784219A>C , CM000663.2:g.237784219A>C	GRCh38
NC_000001.10:g.237947519A>C , CM000663.1:g.237947519A>C	GRCh37
NC_000001.9:g.236014142A>C	NCBI36
NG_008799.2:g.746818A>C
NG_008799.3:g.747036A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3599A>C	ENSP00000499659.2:n.*3599A>C
ENST00000659194.3:c.12495A>C	ENSP00000499653.3:p.Lys4165Asn
ENST00000660292.2:c.12528A>C	ENSP00000499787.2:p.Lys4176Asn
ENST00000659194.2:c.4684A>C
ENST00000366574.7:c.12507A>C MANE Select	ENSP00000355533.2:p.Lys4169Asn
ENST00000659194.1:c.4684A>C
ENST00000660292.1:c.2560A>C
ENST00000360064.7:c.12459A>C	ENSP00000353174.7:p.Lys4153Asn
ENST00000366574.6:c.12507A>C	ENSP00000355533.2:p.Lys4169Asn
ENST00000609119.1:n.3702A>C
NM_001035.2:c.12507A>C	NP_001026.2:p.Lys4169Asn
XM_006711802.2:c.12561A>C	XP_006711865.1:p.Lys4187Asn
XM_006711803.2:c.12558A>C	XP_006711866.1:p.Lys4186Asn
XM_006711804.2:c.12537A>C	XP_006711867.1:p.Lys4179Asn
XM_006711805.2:c.12531A>C	XP_006711868.1:p.Lys4177Asn
XM_006711806.2:c.12525A>C	XP_006711869.1:p.Lys4175Asn
XM_006711807.2:c.12501A>C	XP_006711870.1:p.Lys4167Asn
XM_006711808.2:c.12324A>C	XP_006711871.1:p.Lys4108Asn
XM_006711810.2:c.12468A>C	XP_006711873.1:p.Lys4156Asn
XM_006711802.3:c.12561A>C	XP_006711865.1:p.Lys4187Asn
XM_006711803.3:c.12558A>C	XP_006711866.1:p.Lys4186Asn
XM_006711804.3:c.12537A>C	XP_006711867.1:p.Lys4179Asn
XM_006711805.3:c.12531A>C	XP_006711868.1:p.Lys4177Asn
XM_006711806.3:c.12525A>C	XP_006711869.1:p.Lys4175Asn
XM_006711807.3:c.12501A>C	XP_006711870.1:p.Lys4167Asn
XM_006711808.3:c.12324A>C	XP_006711871.1:p.Lys4108Asn
XM_006711810.3:c.12468A>C	XP_006711873.1:p.Lys4156Asn
XM_017002028.1:c.12540A>C	XP_016857517.1:p.Lys4180Asn
NM_001035.3:c.12507A>C MANE Select	NP_001026.2:p.Lys4169Asn