Canonical Allele Identifier: CA345413418

Gene: RYR2

Linked Data

• dbSNP Id: rs1234963411
• MyVariant Identifiers: chr1:g.237947488A>C (hg19) ; chr1:g.237784188A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784188A>C , CM000663.2:g.237784188A>C	GRCh38
NC_000001.10:g.237947488A>C , CM000663.1:g.237947488A>C	GRCh37
NC_000001.9:g.236014111A>C	NCBI36
NG_008799.2:g.746787A>C
NG_008799.3:g.747005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3568A>C	ENSP00000499659.2:n.*3568A>C
ENST00000659194.3:c.12464A>C	ENSP00000499653.3:p.Gln4155Pro
ENST00000660292.2:c.12497A>C	ENSP00000499787.2:p.Gln4166Pro
ENST00000659194.2:c.4653A>C
ENST00000366574.7:c.12476A>C MANE Select	ENSP00000355533.2:p.Gln4159Pro
ENST00000659194.1:c.4653A>C
ENST00000660292.1:c.2529A>C
ENST00000360064.7:c.12428A>C	ENSP00000353174.7:p.Gln4143Pro
ENST00000366574.6:c.12476A>C	ENSP00000355533.2:p.Gln4159Pro
ENST00000609119.1:n.3671A>C
NM_001035.2:c.12476A>C	NP_001026.2:p.Gln4159Pro
XM_006711802.2:c.12530A>C	XP_006711865.1:p.Gln4177Pro
XM_006711803.2:c.12527A>C	XP_006711866.1:p.Gln4176Pro
XM_006711804.2:c.12506A>C	XP_006711867.1:p.Gln4169Pro
XM_006711805.2:c.12500A>C	XP_006711868.1:p.Gln4167Pro
XM_006711806.2:c.12494A>C	XP_006711869.1:p.Gln4165Pro
XM_006711807.2:c.12470A>C	XP_006711870.1:p.Gln4157Pro
XM_006711808.2:c.12293A>C	XP_006711871.1:p.Gln4098Pro
XM_006711810.2:c.12437A>C	XP_006711873.1:p.Gln4146Pro
XM_006711802.3:c.12530A>C	XP_006711865.1:p.Gln4177Pro
XM_006711803.3:c.12527A>C	XP_006711866.1:p.Gln4176Pro
XM_006711804.3:c.12506A>C	XP_006711867.1:p.Gln4169Pro
XM_006711805.3:c.12500A>C	XP_006711868.1:p.Gln4167Pro
XM_006711806.3:c.12494A>C	XP_006711869.1:p.Gln4165Pro
XM_006711807.3:c.12470A>C	XP_006711870.1:p.Gln4157Pro
XM_006711808.3:c.12293A>C	XP_006711871.1:p.Gln4098Pro
XM_006711810.3:c.12437A>C	XP_006711873.1:p.Gln4146Pro
XM_017002028.1:c.12509A>C	XP_016857517.1:p.Gln4170Pro
NM_001035.3:c.12476A>C MANE Select	NP_001026.2:p.Gln4159Pro