Canonical Allele Identifier: CA345413298

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947461T>C (hg19) ; chr1:g.237784161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784161T>C , CM000663.2:g.237784161T>C	GRCh38
NC_000001.10:g.237947461T>C , CM000663.1:g.237947461T>C	GRCh37
NC_000001.9:g.236014084T>C	NCBI36
NG_008799.2:g.746760T>C
NG_008799.3:g.746978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3541T>C	ENSP00000499659.2:n.*3541T>C
ENST00000659194.3:c.12437T>C	ENSP00000499653.3:p.Phe4146Ser
ENST00000660292.2:c.12470T>C	ENSP00000499787.2:p.Phe4157Ser
ENST00000659194.2:c.4626T>C
ENST00000366574.7:c.12449T>C MANE Select	ENSP00000355533.2:p.Phe4150Ser
ENST00000659194.1:c.4626T>C
ENST00000660292.1:c.2502T>C
ENST00000360064.7:c.12401T>C	ENSP00000353174.7:p.Phe4134Ser
ENST00000366574.6:c.12449T>C	ENSP00000355533.2:p.Phe4150Ser
ENST00000609119.1:n.3644T>C
NM_001035.2:c.12449T>C	NP_001026.2:p.Phe4150Ser
XM_006711802.2:c.12503T>C	XP_006711865.1:p.Phe4168Ser
XM_006711803.2:c.12500T>C	XP_006711866.1:p.Phe4167Ser
XM_006711804.2:c.12479T>C	XP_006711867.1:p.Phe4160Ser
XM_006711805.2:c.12473T>C	XP_006711868.1:p.Phe4158Ser
XM_006711806.2:c.12467T>C	XP_006711869.1:p.Phe4156Ser
XM_006711807.2:c.12443T>C	XP_006711870.1:p.Phe4148Ser
XM_006711808.2:c.12266T>C	XP_006711871.1:p.Phe4089Ser
XM_006711810.2:c.12410T>C	XP_006711873.1:p.Phe4137Ser
XM_006711802.3:c.12503T>C	XP_006711865.1:p.Phe4168Ser
XM_006711803.3:c.12500T>C	XP_006711866.1:p.Phe4167Ser
XM_006711804.3:c.12479T>C	XP_006711867.1:p.Phe4160Ser
XM_006711805.3:c.12473T>C	XP_006711868.1:p.Phe4158Ser
XM_006711806.3:c.12467T>C	XP_006711869.1:p.Phe4156Ser
XM_006711807.3:c.12443T>C	XP_006711870.1:p.Phe4148Ser
XM_006711808.3:c.12266T>C	XP_006711871.1:p.Phe4089Ser
XM_006711810.3:c.12410T>C	XP_006711873.1:p.Phe4137Ser
XM_017002028.1:c.12482T>C	XP_016857517.1:p.Phe4161Ser
NM_001035.3:c.12449T>C MANE Select	NP_001026.2:p.Phe4150Ser