Canonical Allele Identifier: CA345424355

Gene: RYR2

Linked Data

• gnomAD v4: 1-237808982-A-C
• MyVariant Identifiers: chr1:g.237972282A>C (hg19) ; chr1:g.237808982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808982A>C , CM000663.2:g.237808982A>C	GRCh38
NC_000001.10:g.237972282A>C , CM000663.1:g.237972282A>C	GRCh37
NC_000001.9:g.236038905A>C	NCBI36
NG_008799.2:g.771581A>C
NG_008799.3:g.771799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5472A>C	ENSP00000499659.2:n.*5472A>C
ENST00000659194.3:c.14362A>C	ENSP00000499653.3:p.Asn4788His
ENST00000660292.2:c.14401A>C	ENSP00000499787.2:p.Asn4801His
ENST00000659194.2:c.6551A>C
ENST00000366574.7:c.14380A>C MANE Select	ENSP00000355533.2:p.Asn4794His
ENST00000360064.7:c.14329A>C	ENSP00000353174.7:p.Asn4777His
ENST00000366574.6:c.14380A>C	ENSP00000355533.2:p.Asn4794His
ENST00000608590.5:n.891A>C
NM_001035.2:c.14380A>C	NP_001026.2:p.Asn4794His
XM_006711802.2:c.14434A>C	XP_006711865.1:p.Asn4812His
XM_006711803.2:c.14431A>C	XP_006711866.1:p.Asn4811His
XM_006711804.2:c.14410A>C	XP_006711867.1:p.Asn4804His
XM_006711805.2:c.14404A>C	XP_006711868.1:p.Asn4802His
XM_006711806.2:c.14398A>C	XP_006711869.1:p.Asn4800His
XM_006711807.2:c.14374A>C	XP_006711870.1:p.Asn4792His
XM_006711808.2:c.14197A>C	XP_006711871.1:p.Asn4733His
XM_006711810.2:c.14341A>C	XP_006711873.1:p.Asn4781His
XM_006711802.3:c.14434A>C	XP_006711865.1:p.Asn4812His
XM_006711803.3:c.14431A>C	XP_006711866.1:p.Asn4811His
XM_006711804.3:c.14410A>C	XP_006711867.1:p.Asn4804His
XM_006711805.3:c.14404A>C	XP_006711868.1:p.Asn4802His
XM_006711806.3:c.14398A>C	XP_006711869.1:p.Asn4800His
XM_006711807.3:c.14374A>C	XP_006711870.1:p.Asn4792His
XM_006711808.3:c.14197A>C	XP_006711871.1:p.Asn4733His
XM_006711810.3:c.14341A>C	XP_006711873.1:p.Asn4781His
XM_017002028.1:c.14413A>C	XP_016857517.1:p.Asn4805His
NM_001035.3:c.14380A>C MANE Select	NP_001026.2:p.Asn4794His