Canonical Allele Identifier: CA345413489

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3594T>C	ENSP00000499659.2:n.*3594T>C
ENST00000659194.3:c.12490T>C	ENSP00000499653.3:p.Ser4164Pro
ENST00000660292.2:c.12523T>C	ENSP00000499787.2:p.Ser4175Pro
ENST00000659194.2:c.4679T>C
ENST00000366574.7:c.12502T>C MANE Select	ENSP00000355533.2:p.Ser4168Pro
ENST00000659194.1:c.4679T>C
ENST00000660292.1:c.2555T>C
ENST00000360064.7:c.12454T>C	ENSP00000353174.7:p.Ser4152Pro
ENST00000366574.6:c.12502T>C	ENSP00000355533.2:p.Ser4168Pro
ENST00000609119.1:n.3697T>C
NM_001035.2:c.12502T>C	NP_001026.2:p.Ser4168Pro
XM_006711802.2:c.12556T>C	XP_006711865.1:p.Ser4186Pro
XM_006711803.2:c.12553T>C	XP_006711866.1:p.Ser4185Pro
XM_006711804.2:c.12532T>C	XP_006711867.1:p.Ser4178Pro
XM_006711805.2:c.12526T>C	XP_006711868.1:p.Ser4176Pro
XM_006711806.2:c.12520T>C	XP_006711869.1:p.Ser4174Pro
XM_006711807.2:c.12496T>C	XP_006711870.1:p.Ser4166Pro
XM_006711808.2:c.12319T>C	XP_006711871.1:p.Ser4107Pro
XM_006711810.2:c.12463T>C	XP_006711873.1:p.Ser4155Pro
XM_006711802.3:c.12556T>C	XP_006711865.1:p.Ser4186Pro
XM_006711803.3:c.12553T>C	XP_006711866.1:p.Ser4185Pro
XM_006711804.3:c.12532T>C	XP_006711867.1:p.Ser4178Pro
XM_006711805.3:c.12526T>C	XP_006711868.1:p.Ser4176Pro
XM_006711806.3:c.12520T>C	XP_006711869.1:p.Ser4174Pro
XM_006711807.3:c.12496T>C	XP_006711870.1:p.Ser4166Pro
XM_006711808.3:c.12319T>C	XP_006711871.1:p.Ser4107Pro
XM_006711810.3:c.12463T>C	XP_006711873.1:p.Ser4155Pro
XM_017002028.1:c.12535T>C	XP_016857517.1:p.Ser4179Pro
NM_001035.3:c.12502T>C MANE Select	NP_001026.2:p.Ser4168Pro