Canonical Allele Identifier: CA085642

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808903C>T , CM000663.2:g.237808903C>T	GRCh38
NC_000001.10:g.237972203C>T , CM000663.1:g.237972203C>T	GRCh37
NC_000001.9:g.236038826C>T	NCBI36
NG_008799.2:g.771502C>T
NG_008799.3:g.771720C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14301C>T MANE Select	NP_001026.2:p.Leu4767=
ENST00000366574.7:c.14301C>T MANE Select	ENSP00000355533.2:p.Leu4767=
NM_001035.2:c.14301C>T	NP_001026.2:p.Leu4767=
ENST00000360064.7:c.14250C>T	ENSP00000353174.7:p.Leu4750=
ENST00000366574.6:c.14301C>T	ENSP00000355533.2:p.Leu4767=
ENST00000608590.5:n.812C>T
ENST00000609119.2:c.*5393C>T	ENSP00000499659.2:n.*5393C>T
ENST00000659194.2:c.6472C>T
ENST00000659194.3:c.14283C>T	ENSP00000499653.3:p.Leu4761=
ENST00000660292.2:c.14322C>T	ENSP00000499787.2:p.Leu4774=
XM_006711802.2:c.14355C>T	XP_006711865.1:p.Leu4785=
XM_006711802.3:c.14355C>T	XP_006711865.1:p.Leu4785=
XM_006711803.2:c.14352C>T	XP_006711866.1:p.Leu4784=
XM_006711803.3:c.14352C>T	XP_006711866.1:p.Leu4784=
XM_006711804.2:c.14331C>T	XP_006711867.1:p.Leu4777=
XM_006711804.3:c.14331C>T	XP_006711867.1:p.Leu4777=
XM_006711805.2:c.14325C>T	XP_006711868.1:p.Leu4775=
XM_006711805.3:c.14325C>T	XP_006711868.1:p.Leu4775=
XM_006711806.2:c.14319C>T	XP_006711869.1:p.Leu4773=
XM_006711806.3:c.14319C>T	XP_006711869.1:p.Leu4773=
XM_006711807.2:c.14295C>T	XP_006711870.1:p.Leu4765=
XM_006711807.3:c.14295C>T	XP_006711870.1:p.Leu4765=
XM_006711808.2:c.14118C>T	XP_006711871.1:p.Leu4706=
XM_006711808.3:c.14118C>T	XP_006711871.1:p.Leu4706=
XM_006711810.2:c.14262C>T	XP_006711873.1:p.Leu4754=
XM_006711810.3:c.14262C>T	XP_006711873.1:p.Leu4754=
XM_017002028.1:c.14334C>T	XP_016857517.1:p.Leu4778=