Canonical Allele Identifier: CA345396764

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237804270G>A (hg19) ; chr1:g.237640970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640970G>A , CM000663.2:g.237640970G>A	GRCh38
NC_000001.10:g.237804270G>A , CM000663.1:g.237804270G>A	GRCh37
NC_000001.9:g.235870893G>A	NCBI36
NG_008799.2:g.603569G>A
NG_008799.3:g.603787G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7189G>A	ENSP00000499659.2:p.Asp2397Asn
ENST00000659194.3:c.7189G>A	ENSP00000499653.3:p.Asp2397Asn
ENST00000660292.2:c.7189G>A	ENSP00000499787.2:p.Asp2397Asn
ENST00000366574.7:c.7189G>A MANE Select	ENSP00000355533.2:p.Asp2397Asn
ENST00000360064.7:c.7141G>A	ENSP00000353174.7:p.Asp2381Asn
ENST00000366574.6:c.7189G>A	ENSP00000355533.2:p.Asp2397Asn
NM_001035.2:c.7189G>A	NP_001026.2:p.Asp2397Asn
XM_006711802.2:c.7219G>A	XP_006711865.1:p.Asp2407Asn
XM_006711803.2:c.7216G>A	XP_006711866.1:p.Asp2406Asn
XM_006711804.2:c.7219G>A	XP_006711867.1:p.Asp2407Asn
XM_006711805.2:c.7189G>A	XP_006711868.1:p.Asp2397Asn
XM_006711806.2:c.7219G>A	XP_006711869.1:p.Asp2407Asn
XM_006711807.2:c.7219G>A	XP_006711870.1:p.Asp2407Asn
XM_006711808.2:c.7219G>A	XP_006711871.1:p.Asp2407Asn
XM_006711809.2:c.7219G>A	XP_006711872.1:p.Asp2407Asn
XM_006711810.2:c.7186G>A	XP_006711873.1:p.Asp2396Asn
XR_949152.1:n.7500G>A
XM_006711802.3:c.7219G>A	XP_006711865.1:p.Asp2407Asn
XM_006711803.3:c.7216G>A	XP_006711866.1:p.Asp2406Asn
XM_006711804.3:c.7219G>A	XP_006711867.1:p.Asp2407Asn
XM_006711805.3:c.7189G>A	XP_006711868.1:p.Asp2397Asn
XM_006711806.3:c.7219G>A	XP_006711869.1:p.Asp2407Asn
XM_006711807.3:c.7219G>A	XP_006711870.1:p.Asp2407Asn
XM_006711808.3:c.7219G>A	XP_006711871.1:p.Asp2407Asn
XM_006711810.3:c.7186G>A	XP_006711873.1:p.Asp2396Asn
XM_017002028.1:c.7198G>A	XP_016857517.1:p.Asp2400Asn
XR_002957299.1:n.7533G>A
XR_949152.2:n.7533G>A
NM_001035.3:c.7189G>A MANE Select	NP_001026.2:p.Asp2397Asn