Canonical Allele Identifier: CA345429378

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828418-A-T
• MyVariant Identifiers: chr1:g.237991718A>T (hg19) ; chr1:g.237828418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828418A>T , CM000663.2:g.237828418A>T	GRCh38
NC_000001.10:g.237991718A>T , CM000663.1:g.237991718A>T	GRCh37
NC_000001.9:g.236058341A>T	NCBI36
NG_008799.2:g.791017A>T
NG_008799.3:g.791235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5720A>T	ENSP00000499659.2:n.*5720A>T
ENST00000659194.3:c.14610A>T	ENSP00000499653.3:p.Gln4870His
ENST00000660292.2:c.14649A>T	ENSP00000499787.2:p.Gln4883His
ENST00000659194.2:c.6799A>T
ENST00000366574.7:c.14628A>T MANE Select	ENSP00000355533.2:p.Gln4876His
ENST00000360064.7:c.14577A>T	ENSP00000353174.7:p.Gln4859His
ENST00000366574.6:c.14628A>T	ENSP00000355533.2:p.Gln4876His
ENST00000608590.5:n.1139A>T
NM_001035.2:c.14628A>T	NP_001026.2:p.Gln4876His
XM_006711802.2:c.14682A>T	XP_006711865.1:p.Gln4894His
XM_006711803.2:c.14679A>T	XP_006711866.1:p.Gln4893His
XM_006711804.2:c.14658A>T	XP_006711867.1:p.Gln4886His
XM_006711805.2:c.14652A>T	XP_006711868.1:p.Gln4884His
XM_006711806.2:c.14646A>T	XP_006711869.1:p.Gln4882His
XM_006711807.2:c.14622A>T	XP_006711870.1:p.Gln4874His
XM_006711808.2:c.14445A>T	XP_006711871.1:p.Gln4815His
XM_006711810.2:c.14589A>T	XP_006711873.1:p.Gln4863His
XM_006711802.3:c.14682A>T	XP_006711865.1:p.Gln4894His
XM_006711803.3:c.14679A>T	XP_006711866.1:p.Gln4893His
XM_006711804.3:c.14658A>T	XP_006711867.1:p.Gln4886His
XM_006711805.3:c.14652A>T	XP_006711868.1:p.Gln4884His
XM_006711806.3:c.14646A>T	XP_006711869.1:p.Gln4882His
XM_006711807.3:c.14622A>T	XP_006711870.1:p.Gln4874His
XM_006711808.3:c.14445A>T	XP_006711871.1:p.Gln4815His
XM_006711810.3:c.14589A>T	XP_006711873.1:p.Gln4863His
XM_017002028.1:c.14661A>T	XP_016857517.1:p.Gln4887His
NM_001035.3:c.14628A>T MANE Select	NP_001026.2:p.Gln4876His