Canonical Allele Identifier: CA2487480081
Gene: RYR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237778611T= , CM000663.2:g.237778611T= GRCh38
NC_000001.10:g.237941911T= , CM000663.1:g.237941911T= GRCh37
NC_000001.9:g.236008534T= NCBI36
NG_008799.2:g.741210T=
NG_008799.3:g.741428T=

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*2868-55T= ENSP00000499659.2:n.*2868-55T=
ENST00000659194.3:c.11764-55T= ENSP00000499653.3:n.11764-55T=
ENST00000660292.2:c.11797-55T= ENSP00000499787.2:n.11797-55T=
ENST00000659194.2:c.3953-55T=
ENST00000366574.7:c.11776-55T= MANE Select ENSP00000355533.2:n.11776-55T=
ENST00000659194.1:c.3953-55T=
ENST00000660292.1:c.1829-55T=
ENST00000360064.7:c.11728-55T= ENSP00000353174.7:n.11728-55T=
ENST00000366574.6:c.11776-55T= ENSP00000355533.2:n.11776-55T=
ENST00000609119.1:n.2971-55T=
NM_001035.2:c.11776-55T= NP_001026.2:n.11776-55T=
XM_006711802.2:c.11830-55T= XP_006711865.1:n.11830-55T=
XM_006711803.2:c.11827-55T= XP_006711866.1:n.11827-55T=
XM_006711804.2:c.11806-55T= XP_006711867.1:n.11806-55T=
XM_006711805.2:c.11800-55T= XP_006711868.1:n.11800-55T=
XM_006711806.2:c.11794-55T= XP_006711869.1:n.11794-55T=
XM_006711807.2:c.11770-55T= XP_006711870.1:n.11770-55T=
XM_006711808.2:c.11593-55T= XP_006711871.1:n.11593-55T=
XM_006711810.2:c.11737-55T= XP_006711873.1:n.11737-55T=
XM_006711802.3:c.11830-55T= XP_006711865.1:n.11830-55T=
XM_006711803.3:c.11827-55T= XP_006711866.1:n.11827-55T=
XM_006711804.3:c.11806-55T= XP_006711867.1:n.11806-55T=
XM_006711805.3:c.11800-55T= XP_006711868.1:n.11800-55T=
XM_006711806.3:c.11794-55T= XP_006711869.1:n.11794-55T=
XM_006711807.3:c.11770-55T= XP_006711870.1:n.11770-55T=
XM_006711808.3:c.11593-55T= XP_006711871.1:n.11593-55T=
XM_006711810.3:c.11737-55T= XP_006711873.1:n.11737-55T=
XM_017002028.1:c.11809-55T= XP_016857517.1:n.11809-55T=
NM_001035.3:c.11776-55T= MANE Select NP_001026.2:n.11776-55T=