Canonical Allele Identifier: CA345424373

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972286A>C (hg19) ; chr1:g.237808986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808986A>C , CM000663.2:g.237808986A>C	GRCh38
NC_000001.10:g.237972286A>C , CM000663.1:g.237972286A>C	GRCh37
NC_000001.9:g.236038909A>C	NCBI36
NG_008799.2:g.771585A>C
NG_008799.3:g.771803A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5476A>C	ENSP00000499659.2:n.*5476A>C
ENST00000659194.3:c.14366A>C	ENSP00000499653.3:p.Lys4789Thr
ENST00000660292.2:c.14405A>C	ENSP00000499787.2:p.Lys4802Thr
ENST00000659194.2:c.6555A>C
ENST00000366574.7:c.14384A>C MANE Select	ENSP00000355533.2:p.Lys4795Thr
ENST00000360064.7:c.14333A>C	ENSP00000353174.7:p.Lys4778Thr
ENST00000366574.6:c.14384A>C	ENSP00000355533.2:p.Lys4795Thr
ENST00000608590.5:n.895A>C
NM_001035.2:c.14384A>C	NP_001026.2:p.Lys4795Thr
XM_006711802.2:c.14438A>C	XP_006711865.1:p.Lys4813Thr
XM_006711803.2:c.14435A>C	XP_006711866.1:p.Lys4812Thr
XM_006711804.2:c.14414A>C	XP_006711867.1:p.Lys4805Thr
XM_006711805.2:c.14408A>C	XP_006711868.1:p.Lys4803Thr
XM_006711806.2:c.14402A>C	XP_006711869.1:p.Lys4801Thr
XM_006711807.2:c.14378A>C	XP_006711870.1:p.Lys4793Thr
XM_006711808.2:c.14201A>C	XP_006711871.1:p.Lys4734Thr
XM_006711810.2:c.14345A>C	XP_006711873.1:p.Lys4782Thr
XM_006711802.3:c.14438A>C	XP_006711865.1:p.Lys4813Thr
XM_006711803.3:c.14435A>C	XP_006711866.1:p.Lys4812Thr
XM_006711804.3:c.14414A>C	XP_006711867.1:p.Lys4805Thr
XM_006711805.3:c.14408A>C	XP_006711868.1:p.Lys4803Thr
XM_006711806.3:c.14402A>C	XP_006711869.1:p.Lys4801Thr
XM_006711807.3:c.14378A>C	XP_006711870.1:p.Lys4793Thr
XM_006711808.3:c.14201A>C	XP_006711871.1:p.Lys4734Thr
XM_006711810.3:c.14345A>C	XP_006711873.1:p.Lys4782Thr
XM_017002028.1:c.14417A>C	XP_016857517.1:p.Lys4806Thr
NM_001035.3:c.14384A>C MANE Select	NP_001026.2:p.Lys4795Thr