Canonical Allele Identifier: CA345413490

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947514T>G (hg19) ; chr1:g.237784214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784214T>G , CM000663.2:g.237784214T>G	GRCh38
NC_000001.10:g.237947514T>G , CM000663.1:g.237947514T>G	GRCh37
NC_000001.9:g.236014137T>G	NCBI36
NG_008799.2:g.746813T>G
NG_008799.3:g.747031T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3594T>G	ENSP00000499659.2:n.*3594T>G
ENST00000659194.3:c.12490T>G	ENSP00000499653.3:p.Ser4164Ala
ENST00000660292.2:c.12523T>G	ENSP00000499787.2:p.Ser4175Ala
ENST00000659194.2:c.4679T>G
ENST00000366574.7:c.12502T>G MANE Select	ENSP00000355533.2:p.Ser4168Ala
ENST00000659194.1:c.4679T>G
ENST00000660292.1:c.2555T>G
ENST00000360064.7:c.12454T>G	ENSP00000353174.7:p.Ser4152Ala
ENST00000366574.6:c.12502T>G	ENSP00000355533.2:p.Ser4168Ala
ENST00000609119.1:n.3697T>G
NM_001035.2:c.12502T>G	NP_001026.2:p.Ser4168Ala
XM_006711802.2:c.12556T>G	XP_006711865.1:p.Ser4186Ala
XM_006711803.2:c.12553T>G	XP_006711866.1:p.Ser4185Ala
XM_006711804.2:c.12532T>G	XP_006711867.1:p.Ser4178Ala
XM_006711805.2:c.12526T>G	XP_006711868.1:p.Ser4176Ala
XM_006711806.2:c.12520T>G	XP_006711869.1:p.Ser4174Ala
XM_006711807.2:c.12496T>G	XP_006711870.1:p.Ser4166Ala
XM_006711808.2:c.12319T>G	XP_006711871.1:p.Ser4107Ala
XM_006711810.2:c.12463T>G	XP_006711873.1:p.Ser4155Ala
XM_006711802.3:c.12556T>G	XP_006711865.1:p.Ser4186Ala
XM_006711803.3:c.12553T>G	XP_006711866.1:p.Ser4185Ala
XM_006711804.3:c.12532T>G	XP_006711867.1:p.Ser4178Ala
XM_006711805.3:c.12526T>G	XP_006711868.1:p.Ser4176Ala
XM_006711806.3:c.12520T>G	XP_006711869.1:p.Ser4174Ala
XM_006711807.3:c.12496T>G	XP_006711870.1:p.Ser4166Ala
XM_006711808.3:c.12319T>G	XP_006711871.1:p.Ser4107Ala
XM_006711810.3:c.12463T>G	XP_006711873.1:p.Ser4155Ala
XM_017002028.1:c.12535T>G	XP_016857517.1:p.Ser4179Ala
NM_001035.3:c.12502T>G MANE Select	NP_001026.2:p.Ser4168Ala