Canonical Allele Identifier: CA345404460

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237680520G>A , CM000663.2:g.237680520G>A	GRCh38
NC_000001.10:g.237843820G>A , CM000663.1:g.237843820G>A	GRCh37
NC_000001.9:g.235910443G>A	NCBI36
NG_008799.2:g.643119G>A
NG_008799.3:g.643337G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8960G>A MANE Select	NP_001026.2:p.Ser2987Asn
ENST00000366574.7:c.8960G>A MANE Select	ENSP00000355533.2:p.Ser2987Asn
NM_001035.2:c.8960G>A	NP_001026.2:p.Ser2987Asn
ENST00000360064.7:c.8912G>A	ENSP00000353174.7:p.Ser2971Asn
ENST00000366574.6:c.8960G>A	ENSP00000355533.2:p.Ser2987Asn
ENST00000609119.1:n.148G>A
ENST00000609119.2:c.*45G>A	ENSP00000499659.2:n.*45G>A
ENST00000659194.1:c.1149G>A
ENST00000659194.2:c.1149G>A
ENST00000659194.3:c.8960G>A	ENSP00000499653.3:p.Ser2987Asn
ENST00000660292.2:c.8960G>A	ENSP00000499787.2:p.Ser2987Asn
XM_006711802.2:c.8990G>A	XP_006711865.1:p.Ser2997Asn
XM_006711802.3:c.8990G>A	XP_006711865.1:p.Ser2997Asn
XM_006711803.2:c.8987G>A	XP_006711866.1:p.Ser2996Asn
XM_006711803.3:c.8987G>A	XP_006711866.1:p.Ser2996Asn
XM_006711804.2:c.8990G>A	XP_006711867.1:p.Ser2997Asn
XM_006711804.3:c.8990G>A	XP_006711867.1:p.Ser2997Asn
XM_006711805.2:c.8960G>A	XP_006711868.1:p.Ser2987Asn
XM_006711805.3:c.8960G>A	XP_006711868.1:p.Ser2987Asn
XM_006711806.2:c.8990G>A	XP_006711869.1:p.Ser2997Asn
XM_006711806.3:c.8990G>A	XP_006711869.1:p.Ser2997Asn
XM_006711807.2:c.8990G>A	XP_006711870.1:p.Ser2997Asn
XM_006711807.3:c.8990G>A	XP_006711870.1:p.Ser2997Asn
XM_006711808.2:c.8860+5674G>A	XP_006711871.1:n.8860+5674G>A
XM_006711808.3:c.8860+5674G>A	XP_006711871.1:n.8860+5674G>A
XM_006711810.2:c.8957G>A	XP_006711873.1:p.Ser2986Asn
XM_006711810.3:c.8957G>A	XP_006711873.1:p.Ser2986Asn
XM_017002028.1:c.8969G>A	XP_016857517.1:p.Ser2990Asn
XR_949152.1:n.9271G>A
XR_949152.2:n.9304G>A