Canonical Allele Identifier: CA2651219236

Gene: RYR2

Linked Data

• gnomAD v4: 1-237778622-A-ATAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778625_237778629dup , CM000663.2:g.237778625_237778629dup	GRCh38
NC_000001.10:g.237941925_237941929dup , CM000663.1:g.237941925_237941929dup	GRCh37
NC_000001.9:g.236008548_236008552dup	NCBI36
NG_008799.2:g.741224_741228dup
NG_008799.3:g.741442_741446dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2868-41_*2868-37dup	ENSP00000499659.2:n.*2868-41_*2868-37dup
ENST00000659194.3:c.11764-41_11764-37dup	ENSP00000499653.3:n.11764-41_11764-37dup
ENST00000660292.2:c.11797-41_11797-37dup	ENSP00000499787.2:n.11797-41_11797-37dup
ENST00000659194.2:c.3953-41_3953-37dup
ENST00000366574.7:c.11776-41_11776-37dup MANE Select	ENSP00000355533.2:n.11776-41_11776-37dup
ENST00000659194.1:c.3953-41_3953-37dup
ENST00000660292.1:c.1829-41_1829-37dup
ENST00000360064.7:c.11728-41_11728-37dup	ENSP00000353174.7:n.11728-41_11728-37dup
ENST00000366574.6:c.11776-41_11776-37dup	ENSP00000355533.2:n.11776-41_11776-37dup
ENST00000609119.1:n.2971-41_2971-37dup
NM_001035.2:c.11776-41_11776-37dup	NP_001026.2:n.11776-41_11776-37dup
XM_006711802.2:c.11830-41_11830-37dup	XP_006711865.1:n.11830-41_11830-37dup
XM_006711803.2:c.11827-41_11827-37dup	XP_006711866.1:n.11827-41_11827-37dup
XM_006711804.2:c.11806-41_11806-37dup	XP_006711867.1:n.11806-41_11806-37dup
XM_006711805.2:c.11800-41_11800-37dup	XP_006711868.1:n.11800-41_11800-37dup
XM_006711806.2:c.11794-41_11794-37dup	XP_006711869.1:n.11794-41_11794-37dup
XM_006711807.2:c.11770-41_11770-37dup	XP_006711870.1:n.11770-41_11770-37dup
XM_006711808.2:c.11593-41_11593-37dup	XP_006711871.1:n.11593-41_11593-37dup
XM_006711810.2:c.11737-41_11737-37dup	XP_006711873.1:n.11737-41_11737-37dup
XM_006711802.3:c.11830-41_11830-37dup	XP_006711865.1:n.11830-41_11830-37dup
XM_006711803.3:c.11827-41_11827-37dup	XP_006711866.1:n.11827-41_11827-37dup
XM_006711804.3:c.11806-41_11806-37dup	XP_006711867.1:n.11806-41_11806-37dup
XM_006711805.3:c.11800-41_11800-37dup	XP_006711868.1:n.11800-41_11800-37dup
XM_006711806.3:c.11794-41_11794-37dup	XP_006711869.1:n.11794-41_11794-37dup
XM_006711807.3:c.11770-41_11770-37dup	XP_006711870.1:n.11770-41_11770-37dup
XM_006711808.3:c.11593-41_11593-37dup	XP_006711871.1:n.11593-41_11593-37dup
XM_006711810.3:c.11737-41_11737-37dup	XP_006711873.1:n.11737-41_11737-37dup
XM_017002028.1:c.11809-41_11809-37dup	XP_016857517.1:n.11809-41_11809-37dup
NM_001035.3:c.11776-41_11776-37dup MANE Select	NP_001026.2:n.11776-41_11776-37dup