Canonical Allele Identifier: CA424031644

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237614831A>G , CM000663.2:g.237614831A>G	GRCh38
NC_000001.10:g.237778131A>G , CM000663.1:g.237778131A>G	GRCh37
NC_000001.9:g.235844754A>G	NCBI36
NG_008799.2:g.577430A>G
NG_008799.3:g.577648A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.5703A>G MANE Select	NP_001026.2:p.Pro1901=
ENST00000366574.7:c.5703A>G MANE Select	ENSP00000355533.2:p.Pro1901=
NM_001035.2:c.5703A>G	NP_001026.2:p.Pro1901=
ENST00000360064.7:c.5655A>G	ENSP00000353174.7:p.Pro1885=
ENST00000366574.6:c.5703A>G	ENSP00000355533.2:p.Pro1901=
ENST00000609119.2:c.5703A>G	ENSP00000499659.2:p.Pro1901=
ENST00000659194.3:c.5703A>G	ENSP00000499653.3:p.Pro1901=
ENST00000660292.2:c.5703A>G	ENSP00000499787.2:p.Pro1901=
XM_006711802.2:c.5733A>G	XP_006711865.1:p.Pro1911=
XM_006711802.3:c.5733A>G	XP_006711865.1:p.Pro1911=
XM_006711803.2:c.5730A>G	XP_006711866.1:p.Pro1910=
XM_006711803.3:c.5730A>G	XP_006711866.1:p.Pro1910=
XM_006711804.2:c.5733A>G	XP_006711867.1:p.Pro1911=
XM_006711804.3:c.5733A>G	XP_006711867.1:p.Pro1911=
XM_006711805.2:c.5703A>G	XP_006711868.1:p.Pro1901=
XM_006711805.3:c.5703A>G	XP_006711868.1:p.Pro1901=
XM_006711806.2:c.5733A>G	XP_006711869.1:p.Pro1911=
XM_006711806.3:c.5733A>G	XP_006711869.1:p.Pro1911=
XM_006711807.2:c.5733A>G	XP_006711870.1:p.Pro1911=
XM_006711807.3:c.5733A>G	XP_006711870.1:p.Pro1911=
XM_006711808.2:c.5733A>G	XP_006711871.1:p.Pro1911=
XM_006711808.3:c.5733A>G	XP_006711871.1:p.Pro1911=
XM_006711809.2:c.5733A>G	XP_006711872.1:p.Pro1911=
XM_006711810.2:c.5700A>G	XP_006711873.1:p.Pro1900=
XM_006711810.3:c.5700A>G	XP_006711873.1:p.Pro1900=
XM_017002028.1:c.5712A>G	XP_016857517.1:p.Pro1904=
XR_002957299.1:n.6047A>G
XR_949152.1:n.6014A>G
XR_949152.2:n.6047A>G