Canonical Allele Identifier: CA345413038

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947367C>G (hg19) ; chr1:g.237784067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784067C>G , CM000663.2:g.237784067C>G	GRCh38
NC_000001.10:g.237947367C>G , CM000663.1:g.237947367C>G	GRCh37
NC_000001.9:g.236013990C>G	NCBI36
NG_008799.2:g.746666C>G
NG_008799.3:g.746884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3447C>G	ENSP00000499659.2:n.*3447C>G
ENST00000659194.3:c.12343C>G	ENSP00000499653.3:p.Leu4115Val
ENST00000660292.2:c.12376C>G	ENSP00000499787.2:p.Leu4126Val
ENST00000659194.2:c.4532C>G
ENST00000366574.7:c.12355C>G MANE Select	ENSP00000355533.2:p.Leu4119Val
ENST00000659194.1:c.4532C>G
ENST00000660292.1:c.2408C>G
ENST00000360064.7:c.12307C>G	ENSP00000353174.7:p.Leu4103Val
ENST00000366574.6:c.12355C>G	ENSP00000355533.2:p.Leu4119Val
ENST00000609119.1:n.3550C>G
NM_001035.2:c.12355C>G	NP_001026.2:p.Leu4119Val
XM_006711802.2:c.12409C>G	XP_006711865.1:p.Leu4137Val
XM_006711803.2:c.12406C>G	XP_006711866.1:p.Leu4136Val
XM_006711804.2:c.12385C>G	XP_006711867.1:p.Leu4129Val
XM_006711805.2:c.12379C>G	XP_006711868.1:p.Leu4127Val
XM_006711806.2:c.12373C>G	XP_006711869.1:p.Leu4125Val
XM_006711807.2:c.12349C>G	XP_006711870.1:p.Leu4117Val
XM_006711808.2:c.12172C>G	XP_006711871.1:p.Leu4058Val
XM_006711810.2:c.12316C>G	XP_006711873.1:p.Leu4106Val
XM_006711802.3:c.12409C>G	XP_006711865.1:p.Leu4137Val
XM_006711803.3:c.12406C>G	XP_006711866.1:p.Leu4136Val
XM_006711804.3:c.12385C>G	XP_006711867.1:p.Leu4129Val
XM_006711805.3:c.12379C>G	XP_006711868.1:p.Leu4127Val
XM_006711806.3:c.12373C>G	XP_006711869.1:p.Leu4125Val
XM_006711807.3:c.12349C>G	XP_006711870.1:p.Leu4117Val
XM_006711808.3:c.12172C>G	XP_006711871.1:p.Leu4058Val
XM_006711810.3:c.12316C>G	XP_006711873.1:p.Leu4106Val
XM_017002028.1:c.12388C>G	XP_016857517.1:p.Leu4130Val
NM_001035.3:c.12355C>G MANE Select	NP_001026.2:p.Leu4119Val