Canonical Allele Identifier: CA345422601

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806146T>C , CM000663.2:g.237806146T>C	GRCh38
NC_000001.10:g.237969446T>C , CM000663.1:g.237969446T>C	GRCh37
NC_000001.9:g.236036069T>C	NCBI36
NG_008799.2:g.768745T>C
NG_008799.3:g.768963T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14161T>C MANE Select	NP_001026.2:p.Tyr4721His
ENST00000366574.7:c.14161T>C MANE Select	ENSP00000355533.2:p.Tyr4721His
NM_001035.2:c.14161T>C	NP_001026.2:p.Tyr4721His
ENST00000360064.7:c.14110T>C	ENSP00000353174.7:p.Tyr4704His
ENST00000366574.6:c.14161T>C	ENSP00000355533.2:p.Tyr4721His
ENST00000608590.5:n.672T>C
ENST00000609119.2:c.*5253T>C	ENSP00000499659.2:n.*5253T>C
ENST00000659194.2:c.6332T>C
ENST00000659194.3:c.14143T>C	ENSP00000499653.3:p.Tyr4715His
ENST00000660292.2:c.14182T>C	ENSP00000499787.2:p.Tyr4728His
XM_006711802.2:c.14215T>C	XP_006711865.1:p.Tyr4739His
XM_006711802.3:c.14215T>C	XP_006711865.1:p.Tyr4739His
XM_006711803.2:c.14212T>C	XP_006711866.1:p.Tyr4738His
XM_006711803.3:c.14212T>C	XP_006711866.1:p.Tyr4738His
XM_006711804.2:c.14191T>C	XP_006711867.1:p.Tyr4731His
XM_006711804.3:c.14191T>C	XP_006711867.1:p.Tyr4731His
XM_006711805.2:c.14185T>C	XP_006711868.1:p.Tyr4729His
XM_006711805.3:c.14185T>C	XP_006711868.1:p.Tyr4729His
XM_006711806.2:c.14179T>C	XP_006711869.1:p.Tyr4727His
XM_006711806.3:c.14179T>C	XP_006711869.1:p.Tyr4727His
XM_006711807.2:c.14155T>C	XP_006711870.1:p.Tyr4719His
XM_006711807.3:c.14155T>C	XP_006711870.1:p.Tyr4719His
XM_006711808.2:c.13978T>C	XP_006711871.1:p.Tyr4660His
XM_006711808.3:c.13978T>C	XP_006711871.1:p.Tyr4660His
XM_006711810.2:c.14122T>C	XP_006711873.1:p.Tyr4708His
XM_006711810.3:c.14122T>C	XP_006711873.1:p.Tyr4708His
XM_017002028.1:c.14194T>C	XP_016857517.1:p.Tyr4732His