Canonical Allele Identifier: CA345424092

Gene: RYR2

Linked Data

• dbSNP Id: rs1328303281
• MyVariant Identifiers: chr1:g.237972226C>T (hg19) ; chr1:g.237808926C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5416C>T	ENSP00000499659.2:n.*5416C>T
ENST00000659194.3:c.14306C>T	ENSP00000499653.3:p.Ala4769Val
ENST00000660292.2:c.14345C>T	ENSP00000499787.2:p.Ala4782Val
ENST00000659194.2:c.6495C>T
ENST00000366574.7:c.14324C>T MANE Select	ENSP00000355533.2:p.Ala4775Val
ENST00000360064.7:c.14273C>T	ENSP00000353174.7:p.Ala4758Val
ENST00000366574.6:c.14324C>T	ENSP00000355533.2:p.Ala4775Val
ENST00000608590.5:n.835C>T
NM_001035.2:c.14324C>T	NP_001026.2:p.Ala4775Val
XM_006711802.2:c.14378C>T	XP_006711865.1:p.Ala4793Val
XM_006711803.2:c.14375C>T	XP_006711866.1:p.Ala4792Val
XM_006711804.2:c.14354C>T	XP_006711867.1:p.Ala4785Val
XM_006711805.2:c.14348C>T	XP_006711868.1:p.Ala4783Val
XM_006711806.2:c.14342C>T	XP_006711869.1:p.Ala4781Val
XM_006711807.2:c.14318C>T	XP_006711870.1:p.Ala4773Val
XM_006711808.2:c.14141C>T	XP_006711871.1:p.Ala4714Val
XM_006711810.2:c.14285C>T	XP_006711873.1:p.Ala4762Val
XM_006711802.3:c.14378C>T	XP_006711865.1:p.Ala4793Val
XM_006711803.3:c.14375C>T	XP_006711866.1:p.Ala4792Val
XM_006711804.3:c.14354C>T	XP_006711867.1:p.Ala4785Val
XM_006711805.3:c.14348C>T	XP_006711868.1:p.Ala4783Val
XM_006711806.3:c.14342C>T	XP_006711869.1:p.Ala4781Val
XM_006711807.3:c.14318C>T	XP_006711870.1:p.Ala4773Val
XM_006711808.3:c.14141C>T	XP_006711871.1:p.Ala4714Val
XM_006711810.3:c.14285C>T	XP_006711873.1:p.Ala4762Val
XM_017002028.1:c.14357C>T	XP_016857517.1:p.Ala4786Val
NM_001035.3:c.14324C>T MANE Select	NP_001026.2:p.Ala4775Val