Canonical Allele Identifier: CA345424087

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972226C>A (hg19) ; chr1:g.237808926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808926C>A , CM000663.2:g.237808926C>A	GRCh38
NC_000001.10:g.237972226C>A , CM000663.1:g.237972226C>A	GRCh37
NC_000001.9:g.236038849C>A	NCBI36
NG_008799.2:g.771525C>A
NG_008799.3:g.771743C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5416C>A	ENSP00000499659.2:n.*5416C>A
ENST00000659194.3:c.14306C>A	ENSP00000499653.3:p.Ala4769Asp
ENST00000660292.2:c.14345C>A	ENSP00000499787.2:p.Ala4782Asp
ENST00000659194.2:c.6495C>A
ENST00000366574.7:c.14324C>A MANE Select	ENSP00000355533.2:p.Ala4775Asp
ENST00000360064.7:c.14273C>A	ENSP00000353174.7:p.Ala4758Asp
ENST00000366574.6:c.14324C>A	ENSP00000355533.2:p.Ala4775Asp
ENST00000608590.5:n.835C>A
NM_001035.2:c.14324C>A	NP_001026.2:p.Ala4775Asp
XM_006711802.2:c.14378C>A	XP_006711865.1:p.Ala4793Asp
XM_006711803.2:c.14375C>A	XP_006711866.1:p.Ala4792Asp
XM_006711804.2:c.14354C>A	XP_006711867.1:p.Ala4785Asp
XM_006711805.2:c.14348C>A	XP_006711868.1:p.Ala4783Asp
XM_006711806.2:c.14342C>A	XP_006711869.1:p.Ala4781Asp
XM_006711807.2:c.14318C>A	XP_006711870.1:p.Ala4773Asp
XM_006711808.2:c.14141C>A	XP_006711871.1:p.Ala4714Asp
XM_006711810.2:c.14285C>A	XP_006711873.1:p.Ala4762Asp
XM_006711802.3:c.14378C>A	XP_006711865.1:p.Ala4793Asp
XM_006711803.3:c.14375C>A	XP_006711866.1:p.Ala4792Asp
XM_006711804.3:c.14354C>A	XP_006711867.1:p.Ala4785Asp
XM_006711805.3:c.14348C>A	XP_006711868.1:p.Ala4783Asp
XM_006711806.3:c.14342C>A	XP_006711869.1:p.Ala4781Asp
XM_006711807.3:c.14318C>A	XP_006711870.1:p.Ala4773Asp
XM_006711808.3:c.14141C>A	XP_006711871.1:p.Ala4714Asp
XM_006711810.3:c.14285C>A	XP_006711873.1:p.Ala4762Asp
XM_017002028.1:c.14357C>A	XP_016857517.1:p.Ala4786Asp
NM_001035.3:c.14324C>A MANE Select	NP_001026.2:p.Ala4775Asp