Canonical Allele Identifier: CA345424362

Gene: RYR2

Linked Data

• gnomAD v4: 1-237808983-A-G
• MyVariant Identifiers: chr1:g.237972283A>G (hg19) ; chr1:g.237808983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808983A>G , CM000663.2:g.237808983A>G	GRCh38
NC_000001.10:g.237972283A>G , CM000663.1:g.237972283A>G	GRCh37
NC_000001.9:g.236038906A>G	NCBI36
NG_008799.2:g.771582A>G
NG_008799.3:g.771800A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5473A>G	ENSP00000499659.2:n.*5473A>G
ENST00000659194.3:c.14363A>G	ENSP00000499653.3:p.Asn4788Ser
ENST00000660292.2:c.14402A>G	ENSP00000499787.2:p.Asn4801Ser
ENST00000659194.2:c.6552A>G
ENST00000366574.7:c.14381A>G MANE Select	ENSP00000355533.2:p.Asn4794Ser
ENST00000360064.7:c.14330A>G	ENSP00000353174.7:p.Asn4777Ser
ENST00000366574.6:c.14381A>G	ENSP00000355533.2:p.Asn4794Ser
ENST00000608590.5:n.892A>G
NM_001035.2:c.14381A>G	NP_001026.2:p.Asn4794Ser
XM_006711802.2:c.14435A>G	XP_006711865.1:p.Asn4812Ser
XM_006711803.2:c.14432A>G	XP_006711866.1:p.Asn4811Ser
XM_006711804.2:c.14411A>G	XP_006711867.1:p.Asn4804Ser
XM_006711805.2:c.14405A>G	XP_006711868.1:p.Asn4802Ser
XM_006711806.2:c.14399A>G	XP_006711869.1:p.Asn4800Ser
XM_006711807.2:c.14375A>G	XP_006711870.1:p.Asn4792Ser
XM_006711808.2:c.14198A>G	XP_006711871.1:p.Asn4733Ser
XM_006711810.2:c.14342A>G	XP_006711873.1:p.Asn4781Ser
XM_006711802.3:c.14435A>G	XP_006711865.1:p.Asn4812Ser
XM_006711803.3:c.14432A>G	XP_006711866.1:p.Asn4811Ser
XM_006711804.3:c.14411A>G	XP_006711867.1:p.Asn4804Ser
XM_006711805.3:c.14405A>G	XP_006711868.1:p.Asn4802Ser
XM_006711806.3:c.14399A>G	XP_006711869.1:p.Asn4800Ser
XM_006711807.3:c.14375A>G	XP_006711870.1:p.Asn4792Ser
XM_006711808.3:c.14198A>G	XP_006711871.1:p.Asn4733Ser
XM_006711810.3:c.14342A>G	XP_006711873.1:p.Asn4781Ser
XM_017002028.1:c.14414A>G	XP_016857517.1:p.Asn4805Ser
NM_001035.3:c.14381A>G MANE Select	NP_001026.2:p.Asn4794Ser