Canonical Allele Identifier: CA345413736

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947619G>C (hg19) ; chr1:g.237784319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784319G>C , CM000663.2:g.237784319G>C	GRCh38
NC_000001.10:g.237947619G>C , CM000663.1:g.237947619G>C	GRCh37
NC_000001.9:g.236014242G>C	NCBI36
NG_008799.2:g.746918G>C
NG_008799.3:g.747136G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3699G>C	ENSP00000499659.2:n.*3699G>C
ENST00000659194.3:c.12595G>C	ENSP00000499653.3:p.Ala4199Pro
ENST00000660292.2:c.12628G>C	ENSP00000499787.2:p.Ala4210Pro
ENST00000659194.2:c.4784G>C
ENST00000366574.7:c.12607G>C MANE Select	ENSP00000355533.2:p.Ala4203Pro
ENST00000659194.1:c.4784G>C
ENST00000660292.1:c.2660G>C
ENST00000360064.7:c.12559G>C	ENSP00000353174.7:p.Ala4187Pro
ENST00000366574.6:c.12607G>C	ENSP00000355533.2:p.Ala4203Pro
ENST00000609119.1:n.3802G>C
NM_001035.2:c.12607G>C	NP_001026.2:p.Ala4203Pro
XM_006711802.2:c.12661G>C	XP_006711865.1:p.Ala4221Pro
XM_006711803.2:c.12658G>C	XP_006711866.1:p.Ala4220Pro
XM_006711804.2:c.12637G>C	XP_006711867.1:p.Ala4213Pro
XM_006711805.2:c.12631G>C	XP_006711868.1:p.Ala4211Pro
XM_006711806.2:c.12625G>C	XP_006711869.1:p.Ala4209Pro
XM_006711807.2:c.12601G>C	XP_006711870.1:p.Ala4201Pro
XM_006711808.2:c.12424G>C	XP_006711871.1:p.Ala4142Pro
XM_006711810.2:c.12568G>C	XP_006711873.1:p.Ala4190Pro
XM_006711802.3:c.12661G>C	XP_006711865.1:p.Ala4221Pro
XM_006711803.3:c.12658G>C	XP_006711866.1:p.Ala4220Pro
XM_006711804.3:c.12637G>C	XP_006711867.1:p.Ala4213Pro
XM_006711805.3:c.12631G>C	XP_006711868.1:p.Ala4211Pro
XM_006711806.3:c.12625G>C	XP_006711869.1:p.Ala4209Pro
XM_006711807.3:c.12601G>C	XP_006711870.1:p.Ala4201Pro
XM_006711808.3:c.12424G>C	XP_006711871.1:p.Ala4142Pro
XM_006711810.3:c.12568G>C	XP_006711873.1:p.Ala4190Pro
XM_017002028.1:c.12640G>C	XP_016857517.1:p.Ala4214Pro
NM_001035.3:c.12607G>C MANE Select	NP_001026.2:p.Ala4203Pro