Canonical Allele Identifier: CA345413115

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947402G>C (hg19) ; chr1:g.237784102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784102G>C , CM000663.2:g.237784102G>C	GRCh38
NC_000001.10:g.237947402G>C , CM000663.1:g.237947402G>C	GRCh37
NC_000001.9:g.236014025G>C	NCBI36
NG_008799.2:g.746701G>C
NG_008799.3:g.746919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3482G>C	ENSP00000499659.2:n.*3482G>C
ENST00000659194.3:c.12378G>C	ENSP00000499653.3:p.Gln4126His
ENST00000660292.2:c.12411G>C	ENSP00000499787.2:p.Gln4137His
ENST00000659194.2:c.4567G>C
ENST00000366574.7:c.12390G>C MANE Select	ENSP00000355533.2:p.Gln4130His
ENST00000659194.1:c.4567G>C
ENST00000660292.1:c.2443G>C
ENST00000360064.7:c.12342G>C	ENSP00000353174.7:p.Gln4114His
ENST00000366574.6:c.12390G>C	ENSP00000355533.2:p.Gln4130His
ENST00000609119.1:n.3585G>C
NM_001035.2:c.12390G>C	NP_001026.2:p.Gln4130His
XM_006711802.2:c.12444G>C	XP_006711865.1:p.Gln4148His
XM_006711803.2:c.12441G>C	XP_006711866.1:p.Gln4147His
XM_006711804.2:c.12420G>C	XP_006711867.1:p.Gln4140His
XM_006711805.2:c.12414G>C	XP_006711868.1:p.Gln4138His
XM_006711806.2:c.12408G>C	XP_006711869.1:p.Gln4136His
XM_006711807.2:c.12384G>C	XP_006711870.1:p.Gln4128His
XM_006711808.2:c.12207G>C	XP_006711871.1:p.Gln4069His
XM_006711810.2:c.12351G>C	XP_006711873.1:p.Gln4117His
XM_006711802.3:c.12444G>C	XP_006711865.1:p.Gln4148His
XM_006711803.3:c.12441G>C	XP_006711866.1:p.Gln4147His
XM_006711804.3:c.12420G>C	XP_006711867.1:p.Gln4140His
XM_006711805.3:c.12414G>C	XP_006711868.1:p.Gln4138His
XM_006711806.3:c.12408G>C	XP_006711869.1:p.Gln4136His
XM_006711807.3:c.12384G>C	XP_006711870.1:p.Gln4128His
XM_006711808.3:c.12207G>C	XP_006711871.1:p.Gln4069His
XM_006711810.3:c.12351G>C	XP_006711873.1:p.Gln4117His
XM_017002028.1:c.12423G>C	XP_016857517.1:p.Gln4141His
NM_001035.3:c.12390G>C MANE Select	NP_001026.2:p.Gln4130His