Canonical Allele Identifier: CA345413729

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947615G>C (hg19) ; chr1:g.237784315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784315G>C , CM000663.2:g.237784315G>C	GRCh38
NC_000001.10:g.237947615G>C , CM000663.1:g.237947615G>C	GRCh37
NC_000001.9:g.236014238G>C	NCBI36
NG_008799.2:g.746914G>C
NG_008799.3:g.747132G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3695G>C	ENSP00000499659.2:n.*3695G>C
ENST00000659194.3:c.12591G>C	ENSP00000499653.3:p.Gln4197His
ENST00000660292.2:c.12624G>C	ENSP00000499787.2:p.Gln4208His
ENST00000659194.2:c.4780G>C
ENST00000366574.7:c.12603G>C MANE Select	ENSP00000355533.2:p.Gln4201His
ENST00000659194.1:c.4780G>C
ENST00000660292.1:c.2656G>C
ENST00000360064.7:c.12555G>C	ENSP00000353174.7:p.Gln4185His
ENST00000366574.6:c.12603G>C	ENSP00000355533.2:p.Gln4201His
ENST00000609119.1:n.3798G>C
NM_001035.2:c.12603G>C	NP_001026.2:p.Gln4201His
XM_006711802.2:c.12657G>C	XP_006711865.1:p.Gln4219His
XM_006711803.2:c.12654G>C	XP_006711866.1:p.Gln4218His
XM_006711804.2:c.12633G>C	XP_006711867.1:p.Gln4211His
XM_006711805.2:c.12627G>C	XP_006711868.1:p.Gln4209His
XM_006711806.2:c.12621G>C	XP_006711869.1:p.Gln4207His
XM_006711807.2:c.12597G>C	XP_006711870.1:p.Gln4199His
XM_006711808.2:c.12420G>C	XP_006711871.1:p.Gln4140His
XM_006711810.2:c.12564G>C	XP_006711873.1:p.Gln4188His
XM_006711802.3:c.12657G>C	XP_006711865.1:p.Gln4219His
XM_006711803.3:c.12654G>C	XP_006711866.1:p.Gln4218His
XM_006711804.3:c.12633G>C	XP_006711867.1:p.Gln4211His
XM_006711805.3:c.12627G>C	XP_006711868.1:p.Gln4209His
XM_006711806.3:c.12621G>C	XP_006711869.1:p.Gln4207His
XM_006711807.3:c.12597G>C	XP_006711870.1:p.Gln4199His
XM_006711808.3:c.12420G>C	XP_006711871.1:p.Gln4140His
XM_006711810.3:c.12564G>C	XP_006711873.1:p.Gln4188His
XM_017002028.1:c.12636G>C	XP_016857517.1:p.Gln4212His
NM_001035.3:c.12603G>C MANE Select	NP_001026.2:p.Gln4201His