Canonical Allele Identifier: CA345413545

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947535G>C (hg19) ; chr1:g.237784235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784235G>C , CM000663.2:g.237784235G>C	GRCh38
NC_000001.10:g.237947535G>C , CM000663.1:g.237947535G>C	GRCh37
NC_000001.9:g.236014158G>C	NCBI36
NG_008799.2:g.746834G>C
NG_008799.3:g.747052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3615G>C	ENSP00000499659.2:n.*3615G>C
ENST00000659194.3:c.12511G>C	ENSP00000499653.3:p.Asp4171His
ENST00000660292.2:c.12544G>C	ENSP00000499787.2:p.Asp4182His
ENST00000659194.2:c.4700G>C
ENST00000366574.7:c.12523G>C MANE Select	ENSP00000355533.2:p.Asp4175His
ENST00000659194.1:c.4700G>C
ENST00000660292.1:c.2576G>C
ENST00000360064.7:c.12475G>C	ENSP00000353174.7:p.Asp4159His
ENST00000366574.6:c.12523G>C	ENSP00000355533.2:p.Asp4175His
ENST00000609119.1:n.3718G>C
NM_001035.2:c.12523G>C	NP_001026.2:p.Asp4175His
XM_006711802.2:c.12577G>C	XP_006711865.1:p.Asp4193His
XM_006711803.2:c.12574G>C	XP_006711866.1:p.Asp4192His
XM_006711804.2:c.12553G>C	XP_006711867.1:p.Asp4185His
XM_006711805.2:c.12547G>C	XP_006711868.1:p.Asp4183His
XM_006711806.2:c.12541G>C	XP_006711869.1:p.Asp4181His
XM_006711807.2:c.12517G>C	XP_006711870.1:p.Asp4173His
XM_006711808.2:c.12340G>C	XP_006711871.1:p.Asp4114His
XM_006711810.2:c.12484G>C	XP_006711873.1:p.Asp4162His
XM_006711802.3:c.12577G>C	XP_006711865.1:p.Asp4193His
XM_006711803.3:c.12574G>C	XP_006711866.1:p.Asp4192His
XM_006711804.3:c.12553G>C	XP_006711867.1:p.Asp4185His
XM_006711805.3:c.12547G>C	XP_006711868.1:p.Asp4183His
XM_006711806.3:c.12541G>C	XP_006711869.1:p.Asp4181His
XM_006711807.3:c.12517G>C	XP_006711870.1:p.Asp4173His
XM_006711808.3:c.12340G>C	XP_006711871.1:p.Asp4114His
XM_006711810.3:c.12484G>C	XP_006711873.1:p.Asp4162His
XM_017002028.1:c.12556G>C	XP_016857517.1:p.Asp4186His
NM_001035.3:c.12523G>C MANE Select	NP_001026.2:p.Asp4175His