Canonical Allele Identifier: CA345409688

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830557A>C , CM000663.2:g.237830557A>C	GRCh38
NC_000001.10:g.237993857A>C , CM000663.1:g.237993857A>C	GRCh37
NC_000001.9:g.236060480A>C	NCBI36
NG_008799.2:g.793156A>C
NG_008799.3:g.793374A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14683A>C MANE Select	NP_001026.2:p.Asn4895His
ENST00000366574.7:c.14683A>C MANE Select	ENSP00000355533.2:p.Asn4895His
NM_001035.2:c.14683A>C	NP_001026.2:p.Asn4895His
ENST00000360064.7:c.14632A>C	ENSP00000353174.7:p.Asn4878His
ENST00000366574.6:c.14683A>C	ENSP00000355533.2:p.Asn4895His
ENST00000462585.1:n.526A>C
ENST00000608590.5:n.1167-957A>C
ENST00000609119.2:c.*5775A>C	ENSP00000499659.2:n.*5775A>C
ENST00000659194.2:c.6854A>C
ENST00000659194.3:c.14665A>C	ENSP00000499653.3:p.Asn4889His
ENST00000660292.2:c.14704A>C	ENSP00000499787.2:p.Asn4902His
XM_006711802.2:c.14737A>C	XP_006711865.1:p.Asn4913His
XM_006711802.3:c.14737A>C	XP_006711865.1:p.Asn4913His
XM_006711803.2:c.14734A>C	XP_006711866.1:p.Asn4912His
XM_006711803.3:c.14734A>C	XP_006711866.1:p.Asn4912His
XM_006711804.2:c.14713A>C	XP_006711867.1:p.Asn4905His
XM_006711804.3:c.14713A>C	XP_006711867.1:p.Asn4905His
XM_006711805.2:c.14707A>C	XP_006711868.1:p.Asn4903His
XM_006711805.3:c.14707A>C	XP_006711868.1:p.Asn4903His
XM_006711806.2:c.14701A>C	XP_006711869.1:p.Asn4901His
XM_006711806.3:c.14701A>C	XP_006711869.1:p.Asn4901His
XM_006711807.2:c.14677A>C	XP_006711870.1:p.Asn4893His
XM_006711807.3:c.14677A>C	XP_006711870.1:p.Asn4893His
XM_006711808.2:c.14500A>C	XP_006711871.1:p.Asn4834His
XM_006711808.3:c.14500A>C	XP_006711871.1:p.Asn4834His
XM_006711810.2:c.14644A>C	XP_006711873.1:p.Asn4882His
XM_006711810.3:c.14644A>C	XP_006711873.1:p.Asn4882His
XM_017002028.1:c.14716A>C	XP_016857517.1:p.Asn4906His