Canonical Allele Identifier: CA345429406

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237991724A>T (hg19) ; chr1:g.237828424A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828424A>T , CM000663.2:g.237828424A>T	GRCh38
NC_000001.10:g.237991724A>T , CM000663.1:g.237991724A>T	GRCh37
NC_000001.9:g.236058347A>T	NCBI36
NG_008799.2:g.791023A>T
NG_008799.3:g.791241A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5726A>T	ENSP00000499659.2:n.*5726A>T
ENST00000659194.3:c.14616A>T	ENSP00000499653.3:p.Glu4872Asp
ENST00000660292.2:c.14655A>T	ENSP00000499787.2:p.Glu4885Asp
ENST00000659194.2:c.6805A>T
ENST00000366574.7:c.14634A>T MANE Select	ENSP00000355533.2:p.Glu4878Asp
ENST00000360064.7:c.14583A>T	ENSP00000353174.7:p.Glu4861Asp
ENST00000366574.6:c.14634A>T	ENSP00000355533.2:p.Glu4878Asp
ENST00000608590.5:n.1145A>T
NM_001035.2:c.14634A>T	NP_001026.2:p.Glu4878Asp
XM_006711802.2:c.14688A>T	XP_006711865.1:p.Glu4896Asp
XM_006711803.2:c.14685A>T	XP_006711866.1:p.Glu4895Asp
XM_006711804.2:c.14664A>T	XP_006711867.1:p.Glu4888Asp
XM_006711805.2:c.14658A>T	XP_006711868.1:p.Glu4886Asp
XM_006711806.2:c.14652A>T	XP_006711869.1:p.Glu4884Asp
XM_006711807.2:c.14628A>T	XP_006711870.1:p.Glu4876Asp
XM_006711808.2:c.14451A>T	XP_006711871.1:p.Glu4817Asp
XM_006711810.2:c.14595A>T	XP_006711873.1:p.Glu4865Asp
XM_006711802.3:c.14688A>T	XP_006711865.1:p.Glu4896Asp
XM_006711803.3:c.14685A>T	XP_006711866.1:p.Glu4895Asp
XM_006711804.3:c.14664A>T	XP_006711867.1:p.Glu4888Asp
XM_006711805.3:c.14658A>T	XP_006711868.1:p.Glu4886Asp
XM_006711806.3:c.14652A>T	XP_006711869.1:p.Glu4884Asp
XM_006711807.3:c.14628A>T	XP_006711870.1:p.Glu4876Asp
XM_006711808.3:c.14451A>T	XP_006711871.1:p.Glu4817Asp
XM_006711810.3:c.14595A>T	XP_006711873.1:p.Glu4865Asp
XM_017002028.1:c.14667A>T	XP_016857517.1:p.Glu4889Asp
NM_001035.3:c.14634A>T MANE Select	NP_001026.2:p.Glu4878Asp