Canonical Allele Identifier: CA345413442

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947496A>T (hg19) ; chr1:g.237784196A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784196A>T , CM000663.2:g.237784196A>T	GRCh38
NC_000001.10:g.237947496A>T , CM000663.1:g.237947496A>T	GRCh37
NC_000001.9:g.236014119A>T	NCBI36
NG_008799.2:g.746795A>T
NG_008799.3:g.747013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3576A>T	ENSP00000499659.2:n.*3576A>T
ENST00000659194.3:c.12472A>T	ENSP00000499653.3:p.Lys4158Ter
ENST00000660292.2:c.12505A>T	ENSP00000499787.2:p.Lys4169Ter
ENST00000659194.2:c.4661A>T
ENST00000366574.7:c.12484A>T MANE Select	ENSP00000355533.2:p.Lys4162Ter
ENST00000659194.1:c.4661A>T
ENST00000660292.1:c.2537A>T
ENST00000360064.7:c.12436A>T	ENSP00000353174.7:p.Lys4146Ter
ENST00000366574.6:c.12484A>T	ENSP00000355533.2:p.Lys4162Ter
ENST00000609119.1:n.3679A>T
NM_001035.2:c.12484A>T	NP_001026.2:p.Lys4162Ter
XM_006711802.2:c.12538A>T	XP_006711865.1:p.Lys4180Ter
XM_006711803.2:c.12535A>T	XP_006711866.1:p.Lys4179Ter
XM_006711804.2:c.12514A>T	XP_006711867.1:p.Lys4172Ter
XM_006711805.2:c.12508A>T	XP_006711868.1:p.Lys4170Ter
XM_006711806.2:c.12502A>T	XP_006711869.1:p.Lys4168Ter
XM_006711807.2:c.12478A>T	XP_006711870.1:p.Lys4160Ter
XM_006711808.2:c.12301A>T	XP_006711871.1:p.Lys4101Ter
XM_006711810.2:c.12445A>T	XP_006711873.1:p.Lys4149Ter
XM_006711802.3:c.12538A>T	XP_006711865.1:p.Lys4180Ter
XM_006711803.3:c.12535A>T	XP_006711866.1:p.Lys4179Ter
XM_006711804.3:c.12514A>T	XP_006711867.1:p.Lys4172Ter
XM_006711805.3:c.12508A>T	XP_006711868.1:p.Lys4170Ter
XM_006711806.3:c.12502A>T	XP_006711869.1:p.Lys4168Ter
XM_006711807.3:c.12478A>T	XP_006711870.1:p.Lys4160Ter
XM_006711808.3:c.12301A>T	XP_006711871.1:p.Lys4101Ter
XM_006711810.3:c.12445A>T	XP_006711873.1:p.Lys4149Ter
XM_017002028.1:c.12517A>T	XP_016857517.1:p.Lys4173Ter
NM_001035.3:c.12484A>T MANE Select	NP_001026.2:p.Lys4162Ter