Canonical Allele Identifier: CA345413783

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947641A>C (hg19) ; chr1:g.237784341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784341A>C , CM000663.2:g.237784341A>C	GRCh38
NC_000001.10:g.237947641A>C , CM000663.1:g.237947641A>C	GRCh37
NC_000001.9:g.236014264A>C	NCBI36
NG_008799.2:g.746940A>C
NG_008799.3:g.747158A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3721A>C	ENSP00000499659.2:n.*3721A>C
ENST00000659194.3:c.12617A>C	ENSP00000499653.3:p.Asp4206Ala
ENST00000660292.2:c.12650A>C	ENSP00000499787.2:p.Asp4217Ala
ENST00000659194.2:c.4806A>C
ENST00000366574.7:c.12629A>C MANE Select	ENSP00000355533.2:p.Asp4210Ala
ENST00000659194.1:c.4806A>C
ENST00000660292.1:c.2682A>C
ENST00000360064.7:c.12581A>C	ENSP00000353174.7:p.Asp4194Ala
ENST00000366574.6:c.12629A>C	ENSP00000355533.2:p.Asp4210Ala
ENST00000609119.1:n.3824A>C
NM_001035.2:c.12629A>C	NP_001026.2:p.Asp4210Ala
XM_006711802.2:c.12683A>C	XP_006711865.1:p.Asp4228Ala
XM_006711803.2:c.12680A>C	XP_006711866.1:p.Asp4227Ala
XM_006711804.2:c.12659A>C	XP_006711867.1:p.Asp4220Ala
XM_006711805.2:c.12653A>C	XP_006711868.1:p.Asp4218Ala
XM_006711806.2:c.12647A>C	XP_006711869.1:p.Asp4216Ala
XM_006711807.2:c.12623A>C	XP_006711870.1:p.Asp4208Ala
XM_006711808.2:c.12446A>C	XP_006711871.1:p.Asp4149Ala
XM_006711810.2:c.12590A>C	XP_006711873.1:p.Asp4197Ala
XM_006711802.3:c.12683A>C	XP_006711865.1:p.Asp4228Ala
XM_006711803.3:c.12680A>C	XP_006711866.1:p.Asp4227Ala
XM_006711804.3:c.12659A>C	XP_006711867.1:p.Asp4220Ala
XM_006711805.3:c.12653A>C	XP_006711868.1:p.Asp4218Ala
XM_006711806.3:c.12647A>C	XP_006711869.1:p.Asp4216Ala
XM_006711807.3:c.12623A>C	XP_006711870.1:p.Asp4208Ala
XM_006711808.3:c.12446A>C	XP_006711871.1:p.Asp4149Ala
XM_006711810.3:c.12590A>C	XP_006711873.1:p.Asp4197Ala
XM_017002028.1:c.12662A>C	XP_016857517.1:p.Asp4221Ala
NM_001035.3:c.12629A>C MANE Select	NP_001026.2:p.Asp4210Ala