Canonical Allele Identifier: CA345424588

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972328T>A (hg19) ; chr1:g.237809028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809028T>A , CM000663.2:g.237809028T>A	GRCh38
NC_000001.10:g.237972328T>A , CM000663.1:g.237972328T>A	GRCh37
NC_000001.9:g.236038951T>A	NCBI36
NG_008799.2:g.771627T>A
NG_008799.3:g.771845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5518T>A	ENSP00000499659.2:n.*5518T>A
ENST00000659194.3:c.14408T>A	ENSP00000499653.3:p.Met4803Lys
ENST00000660292.2:c.14447T>A	ENSP00000499787.2:p.Met4816Lys
ENST00000659194.2:c.6597T>A
ENST00000366574.7:c.14426T>A MANE Select	ENSP00000355533.2:p.Met4809Lys
ENST00000360064.7:c.14375T>A	ENSP00000353174.7:p.Met4792Lys
ENST00000366574.6:c.14426T>A	ENSP00000355533.2:p.Met4809Lys
ENST00000608590.5:n.937T>A
NM_001035.2:c.14426T>A	NP_001026.2:p.Met4809Lys
XM_006711802.2:c.14480T>A	XP_006711865.1:p.Met4827Lys
XM_006711803.2:c.14477T>A	XP_006711866.1:p.Met4826Lys
XM_006711804.2:c.14456T>A	XP_006711867.1:p.Met4819Lys
XM_006711805.2:c.14450T>A	XP_006711868.1:p.Met4817Lys
XM_006711806.2:c.14444T>A	XP_006711869.1:p.Met4815Lys
XM_006711807.2:c.14420T>A	XP_006711870.1:p.Met4807Lys
XM_006711808.2:c.14243T>A	XP_006711871.1:p.Met4748Lys
XM_006711810.2:c.14387T>A	XP_006711873.1:p.Met4796Lys
XM_006711802.3:c.14480T>A	XP_006711865.1:p.Met4827Lys
XM_006711803.3:c.14477T>A	XP_006711866.1:p.Met4826Lys
XM_006711804.3:c.14456T>A	XP_006711867.1:p.Met4819Lys
XM_006711805.3:c.14450T>A	XP_006711868.1:p.Met4817Lys
XM_006711806.3:c.14444T>A	XP_006711869.1:p.Met4815Lys
XM_006711807.3:c.14420T>A	XP_006711870.1:p.Met4807Lys
XM_006711808.3:c.14243T>A	XP_006711871.1:p.Met4748Lys
XM_006711810.3:c.14387T>A	XP_006711873.1:p.Met4796Lys
XM_017002028.1:c.14459T>A	XP_016857517.1:p.Met4820Lys
NM_001035.3:c.14426T>A MANE Select	NP_001026.2:p.Met4809Lys