Canonical Allele Identifier: CA345403732

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237841406T>G (hg19) ; chr1:g.237678106T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678106T>G , CM000663.2:g.237678106T>G	GRCh38
NC_000001.10:g.237841406T>G , CM000663.1:g.237841406T>G	GRCh37
NC_000001.9:g.235908029T>G	NCBI36
NG_008799.2:g.640705T>G
NG_008799.3:g.640923T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2350T>G	ENSP00000499659.2:n.8831-2350T>G
ENST00000659194.3:c.8889T>G	ENSP00000499653.3:p.Phe2963Leu
ENST00000660292.2:c.8889T>G	ENSP00000499787.2:p.Phe2963Leu
ENST00000659194.2:c.1078T>G
ENST00000366574.7:c.8889T>G MANE Select	ENSP00000355533.2:p.Phe2963Leu
ENST00000659194.1:c.1078T>G
ENST00000360064.7:c.8841T>G	ENSP00000353174.7:p.Phe2947Leu
ENST00000366574.6:c.8889T>G	ENSP00000355533.2:p.Phe2963Leu
ENST00000609119.1:n.84-2350T>G
NM_001035.2:c.8889T>G	NP_001026.2:p.Phe2963Leu
XM_006711802.2:c.8919T>G	XP_006711865.1:p.Phe2973Leu
XM_006711803.2:c.8916T>G	XP_006711866.1:p.Phe2972Leu
XM_006711804.2:c.8919T>G	XP_006711867.1:p.Phe2973Leu
XM_006711805.2:c.8889T>G	XP_006711868.1:p.Phe2963Leu
XM_006711806.2:c.8919T>G	XP_006711869.1:p.Phe2973Leu
XM_006711807.2:c.8919T>G	XP_006711870.1:p.Phe2973Leu
XM_006711808.2:c.8860+3260T>G	XP_006711871.1:n.8860+3260T>G
XM_006711810.2:c.8886T>G	XP_006711873.1:p.Phe2962Leu
XR_949152.1:n.9200T>G
XM_006711802.3:c.8919T>G	XP_006711865.1:p.Phe2973Leu
XM_006711803.3:c.8916T>G	XP_006711866.1:p.Phe2972Leu
XM_006711804.3:c.8919T>G	XP_006711867.1:p.Phe2973Leu
XM_006711805.3:c.8889T>G	XP_006711868.1:p.Phe2963Leu
XM_006711806.3:c.8919T>G	XP_006711869.1:p.Phe2973Leu
XM_006711807.3:c.8919T>G	XP_006711870.1:p.Phe2973Leu
XM_006711808.3:c.8860+3260T>G	XP_006711871.1:n.8860+3260T>G
XM_006711810.3:c.8886T>G	XP_006711873.1:p.Phe2962Leu
XM_017002028.1:c.8898T>G	XP_016857517.1:p.Phe2966Leu
XR_949152.2:n.9233T>G
NM_001035.3:c.8889T>G MANE Select	NP_001026.2:p.Phe2963Leu