Canonical Allele Identifier: CA39791886

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707155A>T , CM000663.2:g.237707155A>T	GRCh38
NC_000001.10:g.237870455A>T , CM000663.1:g.237870455A>T	GRCh37
NC_000001.9:g.235937078A>T	NCBI36
NG_008799.2:g.669754A>T
NG_008799.3:g.669972A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9787A>T MANE Select	NP_001026.2:p.Met3263Leu
ENST00000366574.7:c.9787A>T MANE Select	ENSP00000355533.2:p.Met3263Leu
NM_001035.2:c.9787A>T	NP_001026.2:p.Met3263Leu
ENST00000360064.7:c.9739A>T	ENSP00000353174.7:p.Met3247Leu
ENST00000366574.6:c.9787A>T	ENSP00000355533.2:p.Met3263Leu
ENST00000609119.1:n.925A>T
ENST00000609119.2:c.*822A>T	ENSP00000499659.2:n.*822A>T
ENST00000659194.1:c.1976A>T
ENST00000659194.2:c.1976A>T
ENST00000659194.3:c.9787A>T	ENSP00000499653.3:p.Met3263Leu
ENST00000660292.2:c.9787A>T	ENSP00000499787.2:p.Met3263Leu
XM_006711802.2:c.9817A>T	XP_006711865.1:p.Met3273Leu
XM_006711802.3:c.9817A>T	XP_006711865.1:p.Met3273Leu
XM_006711803.2:c.9814A>T	XP_006711866.1:p.Met3272Leu
XM_006711803.3:c.9814A>T	XP_006711866.1:p.Met3272Leu
XM_006711804.2:c.9817A>T	XP_006711867.1:p.Met3273Leu
XM_006711804.3:c.9817A>T	XP_006711867.1:p.Met3273Leu
XM_006711805.2:c.9787A>T	XP_006711868.1:p.Met3263Leu
XM_006711805.3:c.9787A>T	XP_006711868.1:p.Met3263Leu
XM_006711806.2:c.9817A>T	XP_006711869.1:p.Met3273Leu
XM_006711806.3:c.9817A>T	XP_006711869.1:p.Met3273Leu
XM_006711807.2:c.9817A>T	XP_006711870.1:p.Met3273Leu
XM_006711807.3:c.9817A>T	XP_006711870.1:p.Met3273Leu
XM_006711808.2:c.9580A>T	XP_006711871.1:p.Met3194Leu
XM_006711808.3:c.9580A>T	XP_006711871.1:p.Met3194Leu
XM_006711810.2:c.9784A>T	XP_006711873.1:p.Met3262Leu
XM_006711810.3:c.9784A>T	XP_006711873.1:p.Met3262Leu
XM_017002028.1:c.9796A>T	XP_016857517.1:p.Met3266Leu