Canonical Allele Identifier: CA345429390

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237991721G>C (hg19) ; chr1:g.237828421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828421G>C , CM000663.2:g.237828421G>C	GRCh38
NC_000001.10:g.237991721G>C , CM000663.1:g.237991721G>C	GRCh37
NC_000001.9:g.236058344G>C	NCBI36
NG_008799.2:g.791020G>C
NG_008799.3:g.791238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5723G>C	ENSP00000499659.2:n.*5723G>C
ENST00000659194.3:c.14613G>C	ENSP00000499653.3:p.Gln4871His
ENST00000660292.2:c.14652G>C	ENSP00000499787.2:p.Gln4884His
ENST00000659194.2:c.6802G>C
ENST00000366574.7:c.14631G>C MANE Select	ENSP00000355533.2:p.Gln4877His
ENST00000360064.7:c.14580G>C	ENSP00000353174.7:p.Gln4860His
ENST00000366574.6:c.14631G>C	ENSP00000355533.2:p.Gln4877His
ENST00000608590.5:n.1142G>C
NM_001035.2:c.14631G>C	NP_001026.2:p.Gln4877His
XM_006711802.2:c.14685G>C	XP_006711865.1:p.Gln4895His
XM_006711803.2:c.14682G>C	XP_006711866.1:p.Gln4894His
XM_006711804.2:c.14661G>C	XP_006711867.1:p.Gln4887His
XM_006711805.2:c.14655G>C	XP_006711868.1:p.Gln4885His
XM_006711806.2:c.14649G>C	XP_006711869.1:p.Gln4883His
XM_006711807.2:c.14625G>C	XP_006711870.1:p.Gln4875His
XM_006711808.2:c.14448G>C	XP_006711871.1:p.Gln4816His
XM_006711810.2:c.14592G>C	XP_006711873.1:p.Gln4864His
XM_006711802.3:c.14685G>C	XP_006711865.1:p.Gln4895His
XM_006711803.3:c.14682G>C	XP_006711866.1:p.Gln4894His
XM_006711804.3:c.14661G>C	XP_006711867.1:p.Gln4887His
XM_006711805.3:c.14655G>C	XP_006711868.1:p.Gln4885His
XM_006711806.3:c.14649G>C	XP_006711869.1:p.Gln4883His
XM_006711807.3:c.14625G>C	XP_006711870.1:p.Gln4875His
XM_006711808.3:c.14448G>C	XP_006711871.1:p.Gln4816His
XM_006711810.3:c.14592G>C	XP_006711873.1:p.Gln4864His
XM_017002028.1:c.14664G>C	XP_016857517.1:p.Gln4888His
NM_001035.3:c.14631G>C MANE Select	NP_001026.2:p.Gln4877His