Canonical Allele Identifier: CA087987

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237708918C>T , CM000663.2:g.237708918C>T	GRCh38
NC_000001.10:g.237872218C>T , CM000663.1:g.237872218C>T	GRCh37
NC_000001.9:g.235938841C>T	NCBI36
NG_008799.2:g.671517C>T
NG_008799.3:g.671735C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9962C>T MANE Select	NP_001026.2:p.Pro3321Leu
ENST00000366574.7:c.9962C>T MANE Select	ENSP00000355533.2:p.Pro3321Leu
NM_001035.2:c.9962C>T	NP_001026.2:p.Pro3321Leu
ENST00000360064.7:c.9914C>T	ENSP00000353174.7:p.Pro3305Leu
ENST00000366574.6:c.9962C>T	ENSP00000355533.2:p.Pro3321Leu
ENST00000609119.1:n.1100C>T
ENST00000609119.2:c.*997C>T	ENSP00000499659.2:n.*997C>T
ENST00000659194.1:c.2151C>T
ENST00000659194.2:c.2151C>T
ENST00000659194.3:c.9962C>T	ENSP00000499653.3:p.Pro3321Leu
ENST00000660292.2:c.9962C>T	ENSP00000499787.2:p.Pro3321Leu
XM_006711802.2:c.9992C>T	XP_006711865.1:p.Pro3331Leu
XM_006711802.3:c.9992C>T	XP_006711865.1:p.Pro3331Leu
XM_006711803.2:c.9989C>T	XP_006711866.1:p.Pro3330Leu
XM_006711803.3:c.9989C>T	XP_006711866.1:p.Pro3330Leu
XM_006711804.2:c.9992C>T	XP_006711867.1:p.Pro3331Leu
XM_006711804.3:c.9992C>T	XP_006711867.1:p.Pro3331Leu
XM_006711805.2:c.9962C>T	XP_006711868.1:p.Pro3321Leu
XM_006711805.3:c.9962C>T	XP_006711868.1:p.Pro3321Leu
XM_006711806.2:c.9992C>T	XP_006711869.1:p.Pro3331Leu
XM_006711806.3:c.9992C>T	XP_006711869.1:p.Pro3331Leu
XM_006711807.2:c.9992C>T	XP_006711870.1:p.Pro3331Leu
XM_006711807.3:c.9992C>T	XP_006711870.1:p.Pro3331Leu
XM_006711808.2:c.9755C>T	XP_006711871.1:p.Pro3252Leu
XM_006711808.3:c.9755C>T	XP_006711871.1:p.Pro3252Leu
XM_006711810.2:c.9959C>T	XP_006711873.1:p.Pro3320Leu
XM_006711810.3:c.9959C>T	XP_006711873.1:p.Pro3320Leu
XM_017002028.1:c.9971C>T	XP_016857517.1:p.Pro3324Leu