Canonical Allele Identifier: CA085248

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784557C>T , CM000663.2:g.237784557C>T	GRCh38
NC_000001.10:g.237947857C>T , CM000663.1:g.237947857C>T	GRCh37
NC_000001.9:g.236014480C>T	NCBI36
NG_008799.2:g.747156C>T
NG_008799.3:g.747374C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12845C>T MANE Select	NP_001026.2:p.Ala4282Val
ENST00000366574.7:c.12845C>T MANE Select	ENSP00000355533.2:p.Ala4282Val
NM_001035.2:c.12845C>T	NP_001026.2:p.Ala4282Val
ENST00000360064.7:c.12797C>T	ENSP00000353174.7:p.Ala4266Val
ENST00000366574.6:c.12845C>T	ENSP00000355533.2:p.Ala4282Val
ENST00000609119.1:n.4040C>T
ENST00000609119.2:c.*3937C>T	ENSP00000499659.2:n.*3937C>T
ENST00000659194.1:c.5022C>T
ENST00000659194.2:c.5022C>T
ENST00000659194.3:c.12833C>T	ENSP00000499653.3:p.Ala4278Val
ENST00000660292.1:c.2898C>T
ENST00000660292.2:c.12866C>T	ENSP00000499787.2:p.Ala4289Val
XM_006711802.2:c.12899C>T	XP_006711865.1:p.Ala4300Val
XM_006711802.3:c.12899C>T	XP_006711865.1:p.Ala4300Val
XM_006711803.2:c.12896C>T	XP_006711866.1:p.Ala4299Val
XM_006711803.3:c.12896C>T	XP_006711866.1:p.Ala4299Val
XM_006711804.2:c.12875C>T	XP_006711867.1:p.Ala4292Val
XM_006711804.3:c.12875C>T	XP_006711867.1:p.Ala4292Val
XM_006711805.2:c.12869C>T	XP_006711868.1:p.Ala4290Val
XM_006711805.3:c.12869C>T	XP_006711868.1:p.Ala4290Val
XM_006711806.2:c.12863C>T	XP_006711869.1:p.Ala4288Val
XM_006711806.3:c.12863C>T	XP_006711869.1:p.Ala4288Val
XM_006711807.2:c.12839C>T	XP_006711870.1:p.Ala4280Val
XM_006711807.3:c.12839C>T	XP_006711870.1:p.Ala4280Val
XM_006711808.2:c.12662C>T	XP_006711871.1:p.Ala4221Val
XM_006711808.3:c.12662C>T	XP_006711871.1:p.Ala4221Val
XM_006711810.2:c.12806C>T	XP_006711873.1:p.Ala4269Val
XM_006711810.3:c.12806C>T	XP_006711873.1:p.Ala4269Val
XM_017002028.1:c.12878C>T	XP_016857517.1:p.Ala4293Val