Canonical Allele Identifier: CA2574464333

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828419_237828420del , CM000663.2:g.237828419_237828420del	GRCh38
NC_000001.10:g.237991719_237991720del , CM000663.1:g.237991719_237991720del	GRCh37
NC_000001.9:g.236058342_236058343del	NCBI36
NG_008799.2:g.791018_791019del
NG_008799.3:g.791236_791237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5721_*5722del	ENSP00000499659.2:n.*5721_*5722del
ENST00000659194.3:c.14611_14612del	ENSP00000499653.3:p.Gln4871GlyfsTer19
ENST00000660292.2:c.14650_14651del	ENSP00000499787.2:p.Gln4884GlyfsTer19
ENST00000659194.2:c.6800_6801del
ENST00000366574.7:c.14629_14630del MANE Select	ENSP00000355533.2:p.Gln4877GlyfsTer19
ENST00000360064.7:c.14578_14579del	ENSP00000353174.7:p.Gln4860GlyfsTer19
ENST00000366574.6:c.14629_14630del	ENSP00000355533.2:p.Gln4877GlyfsTer19
ENST00000608590.5:n.1140_1141del
NM_001035.2:c.14629_14630del	NP_001026.2:p.Gln4877GlyfsTer19
XM_006711802.2:c.14683_14684del	XP_006711865.1:p.Gln4895GlyfsTer19
XM_006711803.2:c.14680_14681del	XP_006711866.1:p.Gln4894GlyfsTer19
XM_006711804.2:c.14659_14660del	XP_006711867.1:p.Gln4887GlyfsTer19
XM_006711805.2:c.14653_14654del	XP_006711868.1:p.Gln4885GlyfsTer19
XM_006711806.2:c.14647_14648del	XP_006711869.1:p.Gln4883GlyfsTer19
XM_006711807.2:c.14623_14624del	XP_006711870.1:p.Gln4875GlyfsTer19
XM_006711808.2:c.14446_14447del	XP_006711871.1:p.Gln4816GlyfsTer19
XM_006711810.2:c.14590_14591del	XP_006711873.1:p.Gln4864GlyfsTer19
XM_006711802.3:c.14683_14684del	XP_006711865.1:p.Gln4895GlyfsTer19
XM_006711803.3:c.14680_14681del	XP_006711866.1:p.Gln4894GlyfsTer19
XM_006711804.3:c.14659_14660del	XP_006711867.1:p.Gln4887GlyfsTer19
XM_006711805.3:c.14653_14654del	XP_006711868.1:p.Gln4885GlyfsTer19
XM_006711806.3:c.14647_14648del	XP_006711869.1:p.Gln4883GlyfsTer19
XM_006711807.3:c.14623_14624del	XP_006711870.1:p.Gln4875GlyfsTer19
XM_006711808.3:c.14446_14447del	XP_006711871.1:p.Gln4816GlyfsTer19
XM_006711810.3:c.14590_14591del	XP_006711873.1:p.Gln4864GlyfsTer19
XM_017002028.1:c.14662_14663del	XP_016857517.1:p.Gln4888GlyfsTer19
NM_001035.3:c.14629_14630del MANE Select	NP_001026.2:p.Gln4877GlyfsTer19