Canonical Allele Identifier: CA345424024

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808913G>T , CM000663.2:g.237808913G>T	GRCh38
NC_000001.10:g.237972213G>T , CM000663.1:g.237972213G>T	GRCh37
NC_000001.9:g.236038836G>T	NCBI36
NG_008799.2:g.771512G>T
NG_008799.3:g.771730G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14311G>T MANE Select	NP_001026.2:p.Val4771Phe
ENST00000366574.7:c.14311G>T MANE Select	ENSP00000355533.2:p.Val4771Phe
NM_001035.2:c.14311G>T	NP_001026.2:p.Val4771Phe
ENST00000360064.7:c.14260G>T	ENSP00000353174.7:p.Val4754Phe
ENST00000366574.6:c.14311G>T	ENSP00000355533.2:p.Val4771Phe
ENST00000608590.5:n.822G>T
ENST00000609119.2:c.*5403G>T	ENSP00000499659.2:n.*5403G>T
ENST00000659194.2:c.6482G>T
ENST00000659194.3:c.14293G>T	ENSP00000499653.3:p.Val4765Phe
ENST00000660292.2:c.14332G>T	ENSP00000499787.2:p.Val4778Phe
XM_006711802.2:c.14365G>T	XP_006711865.1:p.Val4789Phe
XM_006711802.3:c.14365G>T	XP_006711865.1:p.Val4789Phe
XM_006711803.2:c.14362G>T	XP_006711866.1:p.Val4788Phe
XM_006711803.3:c.14362G>T	XP_006711866.1:p.Val4788Phe
XM_006711804.2:c.14341G>T	XP_006711867.1:p.Val4781Phe
XM_006711804.3:c.14341G>T	XP_006711867.1:p.Val4781Phe
XM_006711805.2:c.14335G>T	XP_006711868.1:p.Val4779Phe
XM_006711805.3:c.14335G>T	XP_006711868.1:p.Val4779Phe
XM_006711806.2:c.14329G>T	XP_006711869.1:p.Val4777Phe
XM_006711806.3:c.14329G>T	XP_006711869.1:p.Val4777Phe
XM_006711807.2:c.14305G>T	XP_006711870.1:p.Val4769Phe
XM_006711807.3:c.14305G>T	XP_006711870.1:p.Val4769Phe
XM_006711808.2:c.14128G>T	XP_006711871.1:p.Val4710Phe
XM_006711808.3:c.14128G>T	XP_006711871.1:p.Val4710Phe
XM_006711810.2:c.14272G>T	XP_006711873.1:p.Val4758Phe
XM_006711810.3:c.14272G>T	XP_006711873.1:p.Val4758Phe
XM_017002028.1:c.14344G>T	XP_016857517.1:p.Val4782Phe