Canonical Allele Identifier: CA345406656

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934125A>T (hg19) ; chr1:g.237770825A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770825A>T , CM000663.2:g.237770825A>T	GRCh38
NC_000001.10:g.237934125A>T , CM000663.1:g.237934125A>T	GRCh37
NC_000001.9:g.236000748A>T	NCBI36
NG_008799.2:g.733424A>T
NG_008799.3:g.733642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2587A>T	ENSP00000499659.2:n.*2587A>T
ENST00000659194.3:c.11483A>T	ENSP00000499653.3:p.Asp3828Val
ENST00000660292.2:c.11516A>T	ENSP00000499787.2:p.Asp3839Val
ENST00000659194.2:c.3672A>T
ENST00000366574.7:c.11495A>T MANE Select	ENSP00000355533.2:p.Asp3832Val
ENST00000659194.1:c.3672A>T
ENST00000660292.1:c.1548A>T
ENST00000360064.7:c.11447A>T	ENSP00000353174.7:p.Asp3816Val
ENST00000366574.6:c.11495A>T	ENSP00000355533.2:p.Asp3832Val
ENST00000609119.1:n.2690A>T
NM_001035.2:c.11495A>T	NP_001026.2:p.Asp3832Val
XM_006711802.2:c.11549A>T	XP_006711865.1:p.Asp3850Val
XM_006711803.2:c.11546A>T	XP_006711866.1:p.Asp3849Val
XM_006711804.2:c.11525A>T	XP_006711867.1:p.Asp3842Val
XM_006711805.2:c.11519A>T	XP_006711868.1:p.Asp3840Val
XM_006711806.2:c.11513A>T	XP_006711869.1:p.Asp3838Val
XM_006711807.2:c.11489A>T	XP_006711870.1:p.Asp3830Val
XM_006711808.2:c.11312A>T	XP_006711871.1:p.Asp3771Val
XM_006711810.2:c.11456A>T	XP_006711873.1:p.Asp3819Val
XM_006711802.3:c.11549A>T	XP_006711865.1:p.Asp3850Val
XM_006711803.3:c.11546A>T	XP_006711866.1:p.Asp3849Val
XM_006711804.3:c.11525A>T	XP_006711867.1:p.Asp3842Val
XM_006711805.3:c.11519A>T	XP_006711868.1:p.Asp3840Val
XM_006711806.3:c.11513A>T	XP_006711869.1:p.Asp3838Val
XM_006711807.3:c.11489A>T	XP_006711870.1:p.Asp3830Val
XM_006711808.3:c.11312A>T	XP_006711871.1:p.Asp3771Val
XM_006711810.3:c.11456A>T	XP_006711873.1:p.Asp3819Val
XM_017002028.1:c.11528A>T	XP_016857517.1:p.Asp3843Val
NM_001035.3:c.11495A>T MANE Select	NP_001026.2:p.Asp3832Val