Canonical Allele Identifier: CA2651219228

Gene: RYR2

Linked Data

• gnomAD v4: 1-237778603-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778603G>A , CM000663.2:g.237778603G>A	GRCh38
NC_000001.10:g.237941903G>A , CM000663.1:g.237941903G>A	GRCh37
NC_000001.9:g.236008526G>A	NCBI36
NG_008799.2:g.741202G>A
NG_008799.3:g.741420G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2868-63G>A	ENSP00000499659.2:n.*2868-63G>A
ENST00000659194.3:c.11764-63G>A	ENSP00000499653.3:n.11764-63G>A
ENST00000660292.2:c.11797-63G>A	ENSP00000499787.2:n.11797-63G>A
ENST00000659194.2:c.3953-63G>A
ENST00000366574.7:c.11776-63G>A MANE Select	ENSP00000355533.2:n.11776-63G>A
ENST00000659194.1:c.3953-63G>A
ENST00000660292.1:c.1829-63G>A
ENST00000360064.7:c.11728-63G>A	ENSP00000353174.7:n.11728-63G>A
ENST00000366574.6:c.11776-63G>A	ENSP00000355533.2:n.11776-63G>A
ENST00000609119.1:n.2971-63G>A
NM_001035.2:c.11776-63G>A	NP_001026.2:n.11776-63G>A
XM_006711802.2:c.11830-63G>A	XP_006711865.1:n.11830-63G>A
XM_006711803.2:c.11827-63G>A	XP_006711866.1:n.11827-63G>A
XM_006711804.2:c.11806-63G>A	XP_006711867.1:n.11806-63G>A
XM_006711805.2:c.11800-63G>A	XP_006711868.1:n.11800-63G>A
XM_006711806.2:c.11794-63G>A	XP_006711869.1:n.11794-63G>A
XM_006711807.2:c.11770-63G>A	XP_006711870.1:n.11770-63G>A
XM_006711808.2:c.11593-63G>A	XP_006711871.1:n.11593-63G>A
XM_006711810.2:c.11737-63G>A	XP_006711873.1:n.11737-63G>A
XM_006711802.3:c.11830-63G>A	XP_006711865.1:n.11830-63G>A
XM_006711803.3:c.11827-63G>A	XP_006711866.1:n.11827-63G>A
XM_006711804.3:c.11806-63G>A	XP_006711867.1:n.11806-63G>A
XM_006711805.3:c.11800-63G>A	XP_006711868.1:n.11800-63G>A
XM_006711806.3:c.11794-63G>A	XP_006711869.1:n.11794-63G>A
XM_006711807.3:c.11770-63G>A	XP_006711870.1:n.11770-63G>A
XM_006711808.3:c.11593-63G>A	XP_006711871.1:n.11593-63G>A
XM_006711810.3:c.11737-63G>A	XP_006711873.1:n.11737-63G>A
XM_017002028.1:c.11809-63G>A	XP_016857517.1:n.11809-63G>A
NM_001035.3:c.11776-63G>A MANE Select	NP_001026.2:n.11776-63G>A