Canonical Allele Identifier: CA345413368

Gene: RYR2

Linked Data

• dbSNP Id: rs1060500135
• MyVariant Identifiers: chr1:g.237947475T>C (hg19) ; chr1:g.237784175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784175T>C , CM000663.2:g.237784175T>C	GRCh38
NC_000001.10:g.237947475T>C , CM000663.1:g.237947475T>C	GRCh37
NC_000001.9:g.236014098T>C	NCBI36
NG_008799.2:g.746774T>C
NG_008799.3:g.746992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3555T>C	ENSP00000499659.2:n.*3555T>C
ENST00000659194.3:c.12451T>C	ENSP00000499653.3:p.Ser4151Pro
ENST00000660292.2:c.12484T>C	ENSP00000499787.2:p.Ser4162Pro
ENST00000659194.2:c.4640T>C
ENST00000366574.7:c.12463T>C MANE Select	ENSP00000355533.2:p.Ser4155Pro
ENST00000659194.1:c.4640T>C
ENST00000660292.1:c.2516T>C
ENST00000360064.7:c.12415T>C	ENSP00000353174.7:p.Ser4139Pro
ENST00000366574.6:c.12463T>C	ENSP00000355533.2:p.Ser4155Pro
ENST00000609119.1:n.3658T>C
NM_001035.2:c.12463T>C	NP_001026.2:p.Ser4155Pro
XM_006711802.2:c.12517T>C	XP_006711865.1:p.Ser4173Pro
XM_006711803.2:c.12514T>C	XP_006711866.1:p.Ser4172Pro
XM_006711804.2:c.12493T>C	XP_006711867.1:p.Ser4165Pro
XM_006711805.2:c.12487T>C	XP_006711868.1:p.Ser4163Pro
XM_006711806.2:c.12481T>C	XP_006711869.1:p.Ser4161Pro
XM_006711807.2:c.12457T>C	XP_006711870.1:p.Ser4153Pro
XM_006711808.2:c.12280T>C	XP_006711871.1:p.Ser4094Pro
XM_006711810.2:c.12424T>C	XP_006711873.1:p.Ser4142Pro
XM_006711802.3:c.12517T>C	XP_006711865.1:p.Ser4173Pro
XM_006711803.3:c.12514T>C	XP_006711866.1:p.Ser4172Pro
XM_006711804.3:c.12493T>C	XP_006711867.1:p.Ser4165Pro
XM_006711805.3:c.12487T>C	XP_006711868.1:p.Ser4163Pro
XM_006711806.3:c.12481T>C	XP_006711869.1:p.Ser4161Pro
XM_006711807.3:c.12457T>C	XP_006711870.1:p.Ser4153Pro
XM_006711808.3:c.12280T>C	XP_006711871.1:p.Ser4094Pro
XM_006711810.3:c.12424T>C	XP_006711873.1:p.Ser4142Pro
XM_017002028.1:c.12496T>C	XP_016857517.1:p.Ser4166Pro
NM_001035.3:c.12463T>C MANE Select	NP_001026.2:p.Ser4155Pro