Canonical Allele Identifier: CA424051711

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972236A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808936A>G , CM000663.2:g.237808936A>G	GRCh38
NC_000001.10:g.237972236A>G , CM000663.1:g.237972236A>G	GRCh37
NC_000001.9:g.236038859A>G	NCBI36
NG_008799.2:g.771535A>G
NG_008799.3:g.771753A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5426A>G	ENSP00000499659.2:n.*5426A>G
ENST00000659194.3:c.14316A>G	ENSP00000499653.3:p.Val4772=
ENST00000660292.2:c.14355A>G	ENSP00000499787.2:p.Val4785=
ENST00000659194.2:c.6505A>G
ENST00000366574.7:c.14334A>G MANE Select	ENSP00000355533.2:p.Val4778=
ENST00000360064.7:c.14283A>G	ENSP00000353174.7:p.Val4761=
ENST00000366574.6:c.14334A>G	ENSP00000355533.2:p.Val4778=
ENST00000608590.5:n.845A>G
NM_001035.2:c.14334A>G	NP_001026.2:p.Val4778=
XM_006711802.2:c.14388A>G	XP_006711865.1:p.Val4796=
XM_006711803.2:c.14385A>G	XP_006711866.1:p.Val4795=
XM_006711804.2:c.14364A>G	XP_006711867.1:p.Val4788=
XM_006711805.2:c.14358A>G	XP_006711868.1:p.Val4786=
XM_006711806.2:c.14352A>G	XP_006711869.1:p.Val4784=
XM_006711807.2:c.14328A>G	XP_006711870.1:p.Val4776=
XM_006711808.2:c.14151A>G	XP_006711871.1:p.Val4717=
XM_006711810.2:c.14295A>G	XP_006711873.1:p.Val4765=
XM_006711802.3:c.14388A>G	XP_006711865.1:p.Val4796=
XM_006711803.3:c.14385A>G	XP_006711866.1:p.Val4795=
XM_006711804.3:c.14364A>G	XP_006711867.1:p.Val4788=
XM_006711805.3:c.14358A>G	XP_006711868.1:p.Val4786=
XM_006711806.3:c.14352A>G	XP_006711869.1:p.Val4784=
XM_006711807.3:c.14328A>G	XP_006711870.1:p.Val4776=
XM_006711808.3:c.14151A>G	XP_006711871.1:p.Val4717=
XM_006711810.3:c.14295A>G	XP_006711873.1:p.Val4765=
XM_017002028.1:c.14367A>G	XP_016857517.1:p.Val4789=
NM_001035.3:c.14334A>G MANE Select	NP_001026.2:p.Val4778=