Canonical Allele Identifier: CA345413018

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947359A>C (hg19) ; chr1:g.237784059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784059A>C , CM000663.2:g.237784059A>C	GRCh38
NC_000001.10:g.237947359A>C , CM000663.1:g.237947359A>C	GRCh37
NC_000001.9:g.236013982A>C	NCBI36
NG_008799.2:g.746658A>C
NG_008799.3:g.746876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3439A>C	ENSP00000499659.2:n.*3439A>C
ENST00000659194.3:c.12335A>C	ENSP00000499653.3:p.Gln4112Pro
ENST00000660292.2:c.12368A>C	ENSP00000499787.2:p.Gln4123Pro
ENST00000659194.2:c.4524A>C
ENST00000366574.7:c.12347A>C MANE Select	ENSP00000355533.2:p.Gln4116Pro
ENST00000659194.1:c.4524A>C
ENST00000660292.1:c.2400A>C
ENST00000360064.7:c.12299A>C	ENSP00000353174.7:p.Gln4100Pro
ENST00000366574.6:c.12347A>C	ENSP00000355533.2:p.Gln4116Pro
ENST00000609119.1:n.3542A>C
NM_001035.2:c.12347A>C	NP_001026.2:p.Gln4116Pro
XM_006711802.2:c.12401A>C	XP_006711865.1:p.Gln4134Pro
XM_006711803.2:c.12398A>C	XP_006711866.1:p.Gln4133Pro
XM_006711804.2:c.12377A>C	XP_006711867.1:p.Gln4126Pro
XM_006711805.2:c.12371A>C	XP_006711868.1:p.Gln4124Pro
XM_006711806.2:c.12365A>C	XP_006711869.1:p.Gln4122Pro
XM_006711807.2:c.12341A>C	XP_006711870.1:p.Gln4114Pro
XM_006711808.2:c.12164A>C	XP_006711871.1:p.Gln4055Pro
XM_006711810.2:c.12308A>C	XP_006711873.1:p.Gln4103Pro
XM_006711802.3:c.12401A>C	XP_006711865.1:p.Gln4134Pro
XM_006711803.3:c.12398A>C	XP_006711866.1:p.Gln4133Pro
XM_006711804.3:c.12377A>C	XP_006711867.1:p.Gln4126Pro
XM_006711805.3:c.12371A>C	XP_006711868.1:p.Gln4124Pro
XM_006711806.3:c.12365A>C	XP_006711869.1:p.Gln4122Pro
XM_006711807.3:c.12341A>C	XP_006711870.1:p.Gln4114Pro
XM_006711808.3:c.12164A>C	XP_006711871.1:p.Gln4055Pro
XM_006711810.3:c.12308A>C	XP_006711873.1:p.Gln4103Pro
XM_017002028.1:c.12380A>C	XP_016857517.1:p.Gln4127Pro
NM_001035.3:c.12347A>C MANE Select	NP_001026.2:p.Gln4116Pro