Canonical Allele Identifier: CA345412993

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947347A>C (hg19) ; chr1:g.237784047A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784047A>C , CM000663.2:g.237784047A>C	GRCh38
NC_000001.10:g.237947347A>C , CM000663.1:g.237947347A>C	GRCh37
NC_000001.9:g.236013970A>C	NCBI36
NG_008799.2:g.746646A>C
NG_008799.3:g.746864A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3427A>C	ENSP00000499659.2:n.*3427A>C
ENST00000659194.3:c.12323A>C	ENSP00000499653.3:p.Asp4108Ala
ENST00000660292.2:c.12356A>C	ENSP00000499787.2:p.Asp4119Ala
ENST00000659194.2:c.4512A>C
ENST00000366574.7:c.12335A>C MANE Select	ENSP00000355533.2:p.Asp4112Ala
ENST00000659194.1:c.4512A>C
ENST00000660292.1:c.2388A>C
ENST00000360064.7:c.12287A>C	ENSP00000353174.7:p.Asp4096Ala
ENST00000366574.6:c.12335A>C	ENSP00000355533.2:p.Asp4112Ala
ENST00000609119.1:n.3530A>C
NM_001035.2:c.12335A>C	NP_001026.2:p.Asp4112Ala
XM_006711802.2:c.12389A>C	XP_006711865.1:p.Asp4130Ala
XM_006711803.2:c.12386A>C	XP_006711866.1:p.Asp4129Ala
XM_006711804.2:c.12365A>C	XP_006711867.1:p.Asp4122Ala
XM_006711805.2:c.12359A>C	XP_006711868.1:p.Asp4120Ala
XM_006711806.2:c.12353A>C	XP_006711869.1:p.Asp4118Ala
XM_006711807.2:c.12329A>C	XP_006711870.1:p.Asp4110Ala
XM_006711808.2:c.12152A>C	XP_006711871.1:p.Asp4051Ala
XM_006711810.2:c.12296A>C	XP_006711873.1:p.Asp4099Ala
XM_006711802.3:c.12389A>C	XP_006711865.1:p.Asp4130Ala
XM_006711803.3:c.12386A>C	XP_006711866.1:p.Asp4129Ala
XM_006711804.3:c.12365A>C	XP_006711867.1:p.Asp4122Ala
XM_006711805.3:c.12359A>C	XP_006711868.1:p.Asp4120Ala
XM_006711806.3:c.12353A>C	XP_006711869.1:p.Asp4118Ala
XM_006711807.3:c.12329A>C	XP_006711870.1:p.Asp4110Ala
XM_006711808.3:c.12152A>C	XP_006711871.1:p.Asp4051Ala
XM_006711810.3:c.12296A>C	XP_006711873.1:p.Asp4099Ala
XM_017002028.1:c.12368A>C	XP_016857517.1:p.Asp4123Ala
NM_001035.3:c.12335A>C MANE Select	NP_001026.2:p.Asp4112Ala