Canonical Allele Identifier: CA085170

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784045C>T , CM000663.2:g.237784045C>T	GRCh38
NC_000001.10:g.237947345C>T , CM000663.1:g.237947345C>T	GRCh37
NC_000001.9:g.236013968C>T	NCBI36
NG_008799.2:g.746644C>T
NG_008799.3:g.746862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3425C>T	ENSP00000499659.2:n.*3425C>T
ENST00000659194.3:c.12321C>T	ENSP00000499653.3:p.Asn4107=
ENST00000660292.2:c.12354C>T	ENSP00000499787.2:p.Asn4118=
ENST00000659194.2:c.4510C>T
ENST00000366574.7:c.12333C>T MANE Select	ENSP00000355533.2:p.Asn4111=
ENST00000659194.1:c.4510C>T
ENST00000660292.1:c.2386C>T
ENST00000360064.7:c.12285C>T	ENSP00000353174.7:p.Asn4095=
ENST00000366574.6:c.12333C>T	ENSP00000355533.2:p.Asn4111=
ENST00000609119.1:n.3528C>T
NM_001035.2:c.12333C>T	NP_001026.2:p.Asn4111=
XM_006711802.2:c.12387C>T	XP_006711865.1:p.Asn4129=
XM_006711803.2:c.12384C>T	XP_006711866.1:p.Asn4128=
XM_006711804.2:c.12363C>T	XP_006711867.1:p.Asn4121=
XM_006711805.2:c.12357C>T	XP_006711868.1:p.Asn4119=
XM_006711806.2:c.12351C>T	XP_006711869.1:p.Asn4117=
XM_006711807.2:c.12327C>T	XP_006711870.1:p.Asn4109=
XM_006711808.2:c.12150C>T	XP_006711871.1:p.Asn4050=
XM_006711810.2:c.12294C>T	XP_006711873.1:p.Asn4098=
XM_006711802.3:c.12387C>T	XP_006711865.1:p.Asn4129=
XM_006711803.3:c.12384C>T	XP_006711866.1:p.Asn4128=
XM_006711804.3:c.12363C>T	XP_006711867.1:p.Asn4121=
XM_006711805.3:c.12357C>T	XP_006711868.1:p.Asn4119=
XM_006711806.3:c.12351C>T	XP_006711869.1:p.Asn4117=
XM_006711807.3:c.12327C>T	XP_006711870.1:p.Asn4109=
XM_006711808.3:c.12150C>T	XP_006711871.1:p.Asn4050=
XM_006711810.3:c.12294C>T	XP_006711873.1:p.Asn4098=
XM_017002028.1:c.12366C>T	XP_016857517.1:p.Asn4122=
NM_001035.3:c.12333C>T MANE Select	NP_001026.2:p.Asn4111=