Canonical Allele Identifier: CA007989

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792141C>T , CM000663.2:g.237792141C>T	GRCh38
NC_000001.10:g.237955441C>T , CM000663.1:g.237955441C>T	GRCh37
NC_000001.9:g.236022064C>T	NCBI36
NG_008799.2:g.754740C>T
NG_008799.3:g.754958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4692C>T	ENSP00000499659.2:n.*4692C>T
ENST00000659194.3:c.13582C>T	ENSP00000499653.3:p.Pro4528Ser
ENST00000660292.2:c.13621C>T	ENSP00000499787.2:p.Pro4541Ser
ENST00000659194.2:c.5771C>T
ENST00000366574.7:c.13600C>T MANE Select	ENSP00000355533.2:p.Pro4534Ser
ENST00000660292.1:c.3653C>T
ENST00000360064.7:c.13549C>T	ENSP00000353174.7:p.Pro4517Ser
ENST00000366574.6:c.13600C>T	ENSP00000355533.2:p.Pro4534Ser
ENST00000608590.5:n.111C>T
NM_001035.2:c.13600C>T	NP_001026.2:p.Pro4534Ser
XM_006711802.2:c.13654C>T	XP_006711865.1:p.Pro4552Ser
XM_006711803.2:c.13651C>T	XP_006711866.1:p.Pro4551Ser
XM_006711804.2:c.13630C>T	XP_006711867.1:p.Pro4544Ser
XM_006711805.2:c.13624C>T	XP_006711868.1:p.Pro4542Ser
XM_006711806.2:c.13618C>T	XP_006711869.1:p.Pro4540Ser
XM_006711807.2:c.13594C>T	XP_006711870.1:p.Pro4532Ser
XM_006711808.2:c.13417C>T	XP_006711871.1:p.Pro4473Ser
XM_006711810.2:c.13561C>T	XP_006711873.1:p.Pro4521Ser
XM_006711802.3:c.13654C>T	XP_006711865.1:p.Pro4552Ser
XM_006711803.3:c.13651C>T	XP_006711866.1:p.Pro4551Ser
XM_006711804.3:c.13630C>T	XP_006711867.1:p.Pro4544Ser
XM_006711805.3:c.13624C>T	XP_006711868.1:p.Pro4542Ser
XM_006711806.3:c.13618C>T	XP_006711869.1:p.Pro4540Ser
XM_006711807.3:c.13594C>T	XP_006711870.1:p.Pro4532Ser
XM_006711808.3:c.13417C>T	XP_006711871.1:p.Pro4473Ser
XM_006711810.3:c.13561C>T	XP_006711873.1:p.Pro4521Ser
XM_017002028.1:c.13633C>T	XP_016857517.1:p.Pro4545Ser
NM_001035.3:c.13600C>T MANE Select	NP_001026.2:p.Pro4534Ser