Canonical Allele Identifier: CA345424236

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972256C>G (hg19) ; chr1:g.237808956C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808956C>G , CM000663.2:g.237808956C>G	GRCh38
NC_000001.10:g.237972256C>G , CM000663.1:g.237972256C>G	GRCh37
NC_000001.9:g.236038879C>G	NCBI36
NG_008799.2:g.771555C>G
NG_008799.3:g.771773C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5446C>G	ENSP00000499659.2:n.*5446C>G
ENST00000659194.3:c.14336C>G	ENSP00000499653.3:p.Ala4779Gly
ENST00000660292.2:c.14375C>G	ENSP00000499787.2:p.Ala4792Gly
ENST00000659194.2:c.6525C>G
ENST00000366574.7:c.14354C>G MANE Select	ENSP00000355533.2:p.Ala4785Gly
ENST00000360064.7:c.14303C>G	ENSP00000353174.7:p.Ala4768Gly
ENST00000366574.6:c.14354C>G	ENSP00000355533.2:p.Ala4785Gly
ENST00000608590.5:n.865C>G
NM_001035.2:c.14354C>G	NP_001026.2:p.Ala4785Gly
XM_006711802.2:c.14408C>G	XP_006711865.1:p.Ala4803Gly
XM_006711803.2:c.14405C>G	XP_006711866.1:p.Ala4802Gly
XM_006711804.2:c.14384C>G	XP_006711867.1:p.Ala4795Gly
XM_006711805.2:c.14378C>G	XP_006711868.1:p.Ala4793Gly
XM_006711806.2:c.14372C>G	XP_006711869.1:p.Ala4791Gly
XM_006711807.2:c.14348C>G	XP_006711870.1:p.Ala4783Gly
XM_006711808.2:c.14171C>G	XP_006711871.1:p.Ala4724Gly
XM_006711810.2:c.14315C>G	XP_006711873.1:p.Ala4772Gly
XM_006711802.3:c.14408C>G	XP_006711865.1:p.Ala4803Gly
XM_006711803.3:c.14405C>G	XP_006711866.1:p.Ala4802Gly
XM_006711804.3:c.14384C>G	XP_006711867.1:p.Ala4795Gly
XM_006711805.3:c.14378C>G	XP_006711868.1:p.Ala4793Gly
XM_006711806.3:c.14372C>G	XP_006711869.1:p.Ala4791Gly
XM_006711807.3:c.14348C>G	XP_006711870.1:p.Ala4783Gly
XM_006711808.3:c.14171C>G	XP_006711871.1:p.Ala4724Gly
XM_006711810.3:c.14315C>G	XP_006711873.1:p.Ala4772Gly
XM_017002028.1:c.14387C>G	XP_016857517.1:p.Ala4796Gly
NM_001035.3:c.14354C>G MANE Select	NP_001026.2:p.Ala4785Gly