Canonical Allele Identifier: CA16610010

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237705324G>C , CM000663.2:g.237705324G>C	GRCh38
NC_000001.10:g.237868624G>C , CM000663.1:g.237868624G>C	GRCh37
NC_000001.9:g.235935247G>C	NCBI36
NG_008799.2:g.667923G>C
NG_008799.3:g.668141G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9561G>C MANE Select	NP_001026.2:p.Lys3187Asn
ENST00000366574.7:c.9561G>C MANE Select	ENSP00000355533.2:p.Lys3187Asn
NM_001035.2:c.9561G>C	NP_001026.2:p.Lys3187Asn
ENST00000360064.7:c.9513G>C	ENSP00000353174.7:p.Lys3171Asn
ENST00000366574.6:c.9561G>C	ENSP00000355533.2:p.Lys3187Asn
ENST00000609119.1:n.699G>C
ENST00000609119.2:c.*596G>C	ENSP00000499659.2:n.*596G>C
ENST00000659194.1:c.1750G>C
ENST00000659194.2:c.1750G>C
ENST00000659194.3:c.9561G>C	ENSP00000499653.3:p.Lys3187Asn
ENST00000660292.2:c.9561G>C	ENSP00000499787.2:p.Lys3187Asn
XM_006711802.2:c.9591G>C	XP_006711865.1:p.Lys3197Asn
XM_006711802.3:c.9591G>C	XP_006711865.1:p.Lys3197Asn
XM_006711803.2:c.9588G>C	XP_006711866.1:p.Lys3196Asn
XM_006711803.3:c.9588G>C	XP_006711866.1:p.Lys3196Asn
XM_006711804.2:c.9591G>C	XP_006711867.1:p.Lys3197Asn
XM_006711804.3:c.9591G>C	XP_006711867.1:p.Lys3197Asn
XM_006711805.2:c.9561G>C	XP_006711868.1:p.Lys3187Asn
XM_006711805.3:c.9561G>C	XP_006711868.1:p.Lys3187Asn
XM_006711806.2:c.9591G>C	XP_006711869.1:p.Lys3197Asn
XM_006711806.3:c.9591G>C	XP_006711869.1:p.Lys3197Asn
XM_006711807.2:c.9591G>C	XP_006711870.1:p.Lys3197Asn
XM_006711807.3:c.9591G>C	XP_006711870.1:p.Lys3197Asn
XM_006711808.2:c.9354G>C	XP_006711871.1:p.Lys3118Asn
XM_006711808.3:c.9354G>C	XP_006711871.1:p.Lys3118Asn
XM_006711810.2:c.9558G>C	XP_006711873.1:p.Lys3186Asn
XM_006711810.3:c.9558G>C	XP_006711873.1:p.Lys3186Asn
XM_017002028.1:c.9570G>C	XP_016857517.1:p.Lys3190Asn