Canonical Allele Identifier: CA39819868

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237674808G>T , CM000663.2:g.237674808G>T	GRCh38
NC_000001.10:g.237838108G>T , CM000663.1:g.237838108G>T	GRCh37
NC_000001.9:g.235904731G>T	NCBI36
NG_008799.2:g.637407G>T
NG_008799.3:g.637625G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8792G>T MANE Select	NP_001026.2:p.Arg2931Leu
ENST00000366574.7:c.8792G>T MANE Select	ENSP00000355533.2:p.Arg2931Leu
NM_001035.2:c.8792G>T	NP_001026.2:p.Arg2931Leu
ENST00000360064.7:c.8744G>T	ENSP00000353174.7:p.Arg2915Leu
ENST00000366574.6:c.8792G>T	ENSP00000355533.2:p.Arg2931Leu
ENST00000609119.1:n.45G>T
ENST00000609119.2:c.8792G>T	ENSP00000499659.2:p.Arg2931Leu
ENST00000659194.1:c.981G>T
ENST00000659194.2:c.981G>T
ENST00000659194.3:c.8792G>T	ENSP00000499653.3:p.Arg2931Leu
ENST00000660292.2:c.8792G>T	ENSP00000499787.2:p.Arg2931Leu
XM_006711802.2:c.8822G>T	XP_006711865.1:p.Arg2941Leu
XM_006711802.3:c.8822G>T	XP_006711865.1:p.Arg2941Leu
XM_006711803.2:c.8819G>T	XP_006711866.1:p.Arg2940Leu
XM_006711803.3:c.8819G>T	XP_006711866.1:p.Arg2940Leu
XM_006711804.2:c.8822G>T	XP_006711867.1:p.Arg2941Leu
XM_006711804.3:c.8822G>T	XP_006711867.1:p.Arg2941Leu
XM_006711805.2:c.8792G>T	XP_006711868.1:p.Arg2931Leu
XM_006711805.3:c.8792G>T	XP_006711868.1:p.Arg2931Leu
XM_006711806.2:c.8822G>T	XP_006711869.1:p.Arg2941Leu
XM_006711806.3:c.8822G>T	XP_006711869.1:p.Arg2941Leu
XM_006711807.2:c.8822G>T	XP_006711870.1:p.Arg2941Leu
XM_006711807.3:c.8822G>T	XP_006711870.1:p.Arg2941Leu
XM_006711808.2:c.8822G>T	XP_006711871.1:p.Arg2941Leu
XM_006711808.3:c.8822G>T	XP_006711871.1:p.Arg2941Leu
XM_006711810.2:c.8789G>T	XP_006711873.1:p.Arg2930Leu
XM_006711810.3:c.8789G>T	XP_006711873.1:p.Arg2930Leu
XM_017002028.1:c.8801G>T	XP_016857517.1:p.Arg2934Leu
XR_949152.1:n.9103G>T
XR_949152.2:n.9136G>T