Canonical Allele Identifier: CA345417392

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792171G>A , CM000663.2:g.237792171G>A	GRCh38
NC_000001.10:g.237955471G>A , CM000663.1:g.237955471G>A	GRCh37
NC_000001.9:g.236022094G>A	NCBI36
NG_008799.2:g.754770G>A
NG_008799.3:g.754988G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13630G>A MANE Select	NP_001026.2:p.Val4544Met
ENST00000366574.7:c.13630G>A MANE Select	ENSP00000355533.2:p.Val4544Met
NM_001035.2:c.13630G>A	NP_001026.2:p.Val4544Met
ENST00000360064.7:c.13579G>A	ENSP00000353174.7:p.Val4527Met
ENST00000366574.6:c.13630G>A	ENSP00000355533.2:p.Val4544Met
ENST00000608590.5:n.141G>A
ENST00000609119.2:c.*4722G>A	ENSP00000499659.2:n.*4722G>A
ENST00000659194.2:c.5801G>A
ENST00000659194.3:c.13612G>A	ENSP00000499653.3:p.Val4538Met
ENST00000660292.1:c.3683G>A
ENST00000660292.2:c.13651G>A	ENSP00000499787.2:p.Val4551Met
XM_006711802.2:c.13684G>A	XP_006711865.1:p.Val4562Met
XM_006711802.3:c.13684G>A	XP_006711865.1:p.Val4562Met
XM_006711803.2:c.13681G>A	XP_006711866.1:p.Val4561Met
XM_006711803.3:c.13681G>A	XP_006711866.1:p.Val4561Met
XM_006711804.2:c.13660G>A	XP_006711867.1:p.Val4554Met
XM_006711804.3:c.13660G>A	XP_006711867.1:p.Val4554Met
XM_006711805.2:c.13654G>A	XP_006711868.1:p.Val4552Met
XM_006711805.3:c.13654G>A	XP_006711868.1:p.Val4552Met
XM_006711806.2:c.13648G>A	XP_006711869.1:p.Val4550Met
XM_006711806.3:c.13648G>A	XP_006711869.1:p.Val4550Met
XM_006711807.2:c.13624G>A	XP_006711870.1:p.Val4542Met
XM_006711807.3:c.13624G>A	XP_006711870.1:p.Val4542Met
XM_006711808.2:c.13447G>A	XP_006711871.1:p.Val4483Met
XM_006711808.3:c.13447G>A	XP_006711871.1:p.Val4483Met
XM_006711810.2:c.13591G>A	XP_006711873.1:p.Val4531Met
XM_006711810.3:c.13591G>A	XP_006711873.1:p.Val4531Met
XM_017002028.1:c.13663G>A	XP_016857517.1:p.Val4555Met