Canonical Allele Identifier: CA345429392

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828421-G-T
• MyVariant Identifiers: chr1:g.237991721G>T (hg19) ; chr1:g.237828421G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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