Canonical Allele Identifier: CA345424317

Gene: RYR2

Linked Data

• COSMIC: COSM1340509 ; COSM4451848
• MyVariant Identifiers: chr1:g.237972275A>C (hg19) ; chr1:g.237808975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808975A>C , CM000663.2:g.237808975A>C	GRCh38
NC_000001.10:g.237972275A>C , CM000663.1:g.237972275A>C	GRCh37
NC_000001.9:g.236038898A>C	NCBI36
NG_008799.2:g.771574A>C
NG_008799.3:g.771792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5465A>C	ENSP00000499659.2:n.*5465A>C
ENST00000659194.3:c.14355A>C	ENSP00000499653.3:p.Lys4785Asn
ENST00000660292.2:c.14394A>C	ENSP00000499787.2:p.Lys4798Asn
ENST00000659194.2:c.6544A>C
ENST00000366574.7:c.14373A>C MANE Select	ENSP00000355533.2:p.Lys4791Asn
ENST00000360064.7:c.14322A>C	ENSP00000353174.7:p.Lys4774Asn
ENST00000366574.6:c.14373A>C	ENSP00000355533.2:p.Lys4791Asn
ENST00000608590.5:n.884A>C
NM_001035.2:c.14373A>C	NP_001026.2:p.Lys4791Asn
XM_006711802.2:c.14427A>C	XP_006711865.1:p.Lys4809Asn
XM_006711803.2:c.14424A>C	XP_006711866.1:p.Lys4808Asn
XM_006711804.2:c.14403A>C	XP_006711867.1:p.Lys4801Asn
XM_006711805.2:c.14397A>C	XP_006711868.1:p.Lys4799Asn
XM_006711806.2:c.14391A>C	XP_006711869.1:p.Lys4797Asn
XM_006711807.2:c.14367A>C	XP_006711870.1:p.Lys4789Asn
XM_006711808.2:c.14190A>C	XP_006711871.1:p.Lys4730Asn
XM_006711810.2:c.14334A>C	XP_006711873.1:p.Lys4778Asn
XM_006711802.3:c.14427A>C	XP_006711865.1:p.Lys4809Asn
XM_006711803.3:c.14424A>C	XP_006711866.1:p.Lys4808Asn
XM_006711804.3:c.14403A>C	XP_006711867.1:p.Lys4801Asn
XM_006711805.3:c.14397A>C	XP_006711868.1:p.Lys4799Asn
XM_006711806.3:c.14391A>C	XP_006711869.1:p.Lys4797Asn
XM_006711807.3:c.14367A>C	XP_006711870.1:p.Lys4789Asn
XM_006711808.3:c.14190A>C	XP_006711871.1:p.Lys4730Asn
XM_006711810.3:c.14334A>C	XP_006711873.1:p.Lys4778Asn
XM_017002028.1:c.14406A>C	XP_016857517.1:p.Lys4802Asn
NM_001035.3:c.14373A>C MANE Select	NP_001026.2:p.Lys4791Asn