Canonical Allele Identifier: CA39827394

Gene: RYR2

Linked Data

• dbSNP Id: rs952213347
• gnomAD v2: 1-237947297-C-T
• gnomAD v3: 1-237783997-C-T
• gnomAD v4: 1-237783997-C-T
• MyVariant Identifiers: chr1:g.237947297C>T (hg19) ; chr1:g.237783997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783997C>T , CM000663.2:g.237783997C>T	GRCh38
NC_000001.10:g.237947297C>T , CM000663.1:g.237947297C>T	GRCh37
NC_000001.9:g.236013920C>T	NCBI36
NG_008799.2:g.746596C>T
NG_008799.3:g.746814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3377C>T	ENSP00000499659.2:n.*3377C>T
ENST00000659194.3:c.12273C>T	ENSP00000499653.3:p.Gly4091=
ENST00000660292.2:c.12306C>T	ENSP00000499787.2:p.Gly4102=
ENST00000659194.2:c.4462C>T
ENST00000366574.7:c.12285C>T MANE Select	ENSP00000355533.2:p.Gly4095=
ENST00000659194.1:c.4462C>T
ENST00000660292.1:c.2338C>T
ENST00000360064.7:c.12237C>T	ENSP00000353174.7:p.Gly4079=
ENST00000366574.6:c.12285C>T	ENSP00000355533.2:p.Gly4095=
ENST00000609119.1:n.3480C>T
NM_001035.2:c.12285C>T	NP_001026.2:p.Gly4095=
XM_006711802.2:c.12339C>T	XP_006711865.1:p.Gly4113=
XM_006711803.2:c.12336C>T	XP_006711866.1:p.Gly4112=
XM_006711804.2:c.12315C>T	XP_006711867.1:p.Gly4105=
XM_006711805.2:c.12309C>T	XP_006711868.1:p.Gly4103=
XM_006711806.2:c.12303C>T	XP_006711869.1:p.Gly4101=
XM_006711807.2:c.12279C>T	XP_006711870.1:p.Gly4093=
XM_006711808.2:c.12102C>T	XP_006711871.1:p.Gly4034=
XM_006711810.2:c.12246C>T	XP_006711873.1:p.Gly4082=
XM_006711802.3:c.12339C>T	XP_006711865.1:p.Gly4113=
XM_006711803.3:c.12336C>T	XP_006711866.1:p.Gly4112=
XM_006711804.3:c.12315C>T	XP_006711867.1:p.Gly4105=
XM_006711805.3:c.12309C>T	XP_006711868.1:p.Gly4103=
XM_006711806.3:c.12303C>T	XP_006711869.1:p.Gly4101=
XM_006711807.3:c.12279C>T	XP_006711870.1:p.Gly4093=
XM_006711808.3:c.12102C>T	XP_006711871.1:p.Gly4034=
XM_006711810.3:c.12246C>T	XP_006711873.1:p.Gly4082=
XM_017002028.1:c.12318C>T	XP_016857517.1:p.Gly4106=
NM_001035.3:c.12285C>T MANE Select	NP_001026.2:p.Gly4095=