Canonical Allele Identifier: CA2487493341

Gene: RYR2

Linked Data

• dbSNP Id: rs571864633
• gnomAD v4: 1-237808826-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808826C>A , CM000663.2:g.237808826C>A	GRCh38
NC_000001.10:g.237972126C>A , CM000663.1:g.237972126C>A	GRCh37
NC_000001.9:g.236038749C>A	NCBI36
NG_008799.2:g.771425C>A
NG_008799.3:g.771643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5391-75C>A	ENSP00000499659.2:n.*5391-75C>A
ENST00000659194.3:c.14281-75C>A	ENSP00000499653.3:n.14281-75C>A
ENST00000660292.2:c.14320-75C>A	ENSP00000499787.2:n.14320-75C>A
ENST00000659194.2:c.6470-75C>A
ENST00000366574.7:c.14299-75C>A MANE Select	ENSP00000355533.2:n.14299-75C>A
ENST00000360064.7:c.14248-75C>A	ENSP00000353174.7:n.14248-75C>A
ENST00000366574.6:c.14299-75C>A	ENSP00000355533.2:n.14299-75C>A
ENST00000608590.5:n.810-75C>A
NM_001035.2:c.14299-75C>A	NP_001026.2:n.14299-75C>A
XM_006711802.2:c.14353-75C>A	XP_006711865.1:n.14353-75C>A
XM_006711803.2:c.14350-75C>A	XP_006711866.1:n.14350-75C>A
XM_006711804.2:c.14329-75C>A	XP_006711867.1:n.14329-75C>A
XM_006711805.2:c.14323-75C>A	XP_006711868.1:n.14323-75C>A
XM_006711806.2:c.14317-75C>A	XP_006711869.1:n.14317-75C>A
XM_006711807.2:c.14293-75C>A	XP_006711870.1:n.14293-75C>A
XM_006711808.2:c.14116-75C>A	XP_006711871.1:n.14116-75C>A
XM_006711810.2:c.14260-75C>A	XP_006711873.1:n.14260-75C>A
XM_006711802.3:c.14353-75C>A	XP_006711865.1:n.14353-75C>A
XM_006711803.3:c.14350-75C>A	XP_006711866.1:n.14350-75C>A
XM_006711804.3:c.14329-75C>A	XP_006711867.1:n.14329-75C>A
XM_006711805.3:c.14323-75C>A	XP_006711868.1:n.14323-75C>A
XM_006711806.3:c.14317-75C>A	XP_006711869.1:n.14317-75C>A
XM_006711807.3:c.14293-75C>A	XP_006711870.1:n.14293-75C>A
XM_006711808.3:c.14116-75C>A	XP_006711871.1:n.14116-75C>A
XM_006711810.3:c.14260-75C>A	XP_006711873.1:n.14260-75C>A
XM_017002028.1:c.14332-75C>A	XP_016857517.1:n.14332-75C>A
NM_001035.3:c.14299-75C>A MANE Select	NP_001026.2:n.14299-75C>A