Canonical Allele Identifier: CA085313

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784941T>C , CM000663.2:g.237784941T>C	GRCh38
NC_000001.10:g.237948241T>C , CM000663.1:g.237948241T>C	GRCh37
NC_000001.9:g.236014864T>C	NCBI36
NG_008799.2:g.747540T>C
NG_008799.3:g.747758T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13229T>C MANE Select	NP_001026.2:p.Val4410Ala
ENST00000366574.7:c.13229T>C MANE Select	ENSP00000355533.2:p.Val4410Ala
NM_001035.2:c.13229T>C	NP_001026.2:p.Val4410Ala
ENST00000360064.7:c.13181T>C	ENSP00000353174.7:p.Val4394Ala
ENST00000366574.6:c.13229T>C	ENSP00000355533.2:p.Val4410Ala
ENST00000609119.1:n.4424T>C
ENST00000609119.2:c.*4321T>C	ENSP00000499659.2:n.*4321T>C
ENST00000659194.1:c.5406T>C
ENST00000659194.2:c.5406T>C
ENST00000659194.3:c.13217T>C	ENSP00000499653.3:p.Val4406Ala
ENST00000660292.1:c.3282T>C
ENST00000660292.2:c.13250T>C	ENSP00000499787.2:p.Val4417Ala
XM_006711802.2:c.13283T>C	XP_006711865.1:p.Val4428Ala
XM_006711802.3:c.13283T>C	XP_006711865.1:p.Val4428Ala
XM_006711803.2:c.13280T>C	XP_006711866.1:p.Val4427Ala
XM_006711803.3:c.13280T>C	XP_006711866.1:p.Val4427Ala
XM_006711804.2:c.13259T>C	XP_006711867.1:p.Val4420Ala
XM_006711804.3:c.13259T>C	XP_006711867.1:p.Val4420Ala
XM_006711805.2:c.13253T>C	XP_006711868.1:p.Val4418Ala
XM_006711805.3:c.13253T>C	XP_006711868.1:p.Val4418Ala
XM_006711806.2:c.13247T>C	XP_006711869.1:p.Val4416Ala
XM_006711806.3:c.13247T>C	XP_006711869.1:p.Val4416Ala
XM_006711807.2:c.13223T>C	XP_006711870.1:p.Val4408Ala
XM_006711807.3:c.13223T>C	XP_006711870.1:p.Val4408Ala
XM_006711808.2:c.13046T>C	XP_006711871.1:p.Val4349Ala
XM_006711808.3:c.13046T>C	XP_006711871.1:p.Val4349Ala
XM_006711810.2:c.13190T>C	XP_006711873.1:p.Val4397Ala
XM_006711810.3:c.13190T>C	XP_006711873.1:p.Val4397Ala
XM_017002028.1:c.13262T>C	XP_016857517.1:p.Val4421Ala