Canonical Allele Identifier: CA345406659

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770827-G-C
• MyVariant Identifiers: chr1:g.237934127G>C (hg19) ; chr1:g.237770827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770827G>C , CM000663.2:g.237770827G>C	GRCh38
NC_000001.10:g.237934127G>C , CM000663.1:g.237934127G>C	GRCh37
NC_000001.9:g.236000750G>C	NCBI36
NG_008799.2:g.733426G>C
NG_008799.3:g.733644G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2589G>C	ENSP00000499659.2:n.*2589G>C
ENST00000659194.3:c.11485G>C	ENSP00000499653.3:p.Asp3829His
ENST00000660292.2:c.11518G>C	ENSP00000499787.2:p.Asp3840His
ENST00000659194.2:c.3674G>C
ENST00000366574.7:c.11497G>C MANE Select	ENSP00000355533.2:p.Asp3833His
ENST00000659194.1:c.3674G>C
ENST00000660292.1:c.1550G>C
ENST00000360064.7:c.11449G>C	ENSP00000353174.7:p.Asp3817His
ENST00000366574.6:c.11497G>C	ENSP00000355533.2:p.Asp3833His
ENST00000609119.1:n.2692G>C
NM_001035.2:c.11497G>C	NP_001026.2:p.Asp3833His
XM_006711802.2:c.11551G>C	XP_006711865.1:p.Asp3851His
XM_006711803.2:c.11548G>C	XP_006711866.1:p.Asp3850His
XM_006711804.2:c.11527G>C	XP_006711867.1:p.Asp3843His
XM_006711805.2:c.11521G>C	XP_006711868.1:p.Asp3841His
XM_006711806.2:c.11515G>C	XP_006711869.1:p.Asp3839His
XM_006711807.2:c.11491G>C	XP_006711870.1:p.Asp3831His
XM_006711808.2:c.11314G>C	XP_006711871.1:p.Asp3772His
XM_006711810.2:c.11458G>C	XP_006711873.1:p.Asp3820His
XM_006711802.3:c.11551G>C	XP_006711865.1:p.Asp3851His
XM_006711803.3:c.11548G>C	XP_006711866.1:p.Asp3850His
XM_006711804.3:c.11527G>C	XP_006711867.1:p.Asp3843His
XM_006711805.3:c.11521G>C	XP_006711868.1:p.Asp3841His
XM_006711806.3:c.11515G>C	XP_006711869.1:p.Asp3839His
XM_006711807.3:c.11491G>C	XP_006711870.1:p.Asp3831His
XM_006711808.3:c.11314G>C	XP_006711871.1:p.Asp3772His
XM_006711810.3:c.11458G>C	XP_006711873.1:p.Asp3820His
XM_017002028.1:c.11530G>C	XP_016857517.1:p.Asp3844His
NM_001035.3:c.11497G>C MANE Select	NP_001026.2:p.Asp3833His