Canonical Allele Identifier: CA2651219227

Gene: RYR2

Linked Data

• gnomAD v4: 1-237778602-T-TAACAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778602_237778603insAACAGGG , CM000663.2:g.237778602_237778603insAACAGGG	GRCh38
NC_000001.10:g.237941902_237941903insAACAGGG , CM000663.1:g.237941902_237941903insAACAGGG	GRCh37
NC_000001.9:g.236008525_236008526insAACAGGG	NCBI36
NG_008799.2:g.741201_741202insAACAGGG
NG_008799.3:g.741419_741420insAACAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2868-64_*2868-63insAACAGGG	ENSP00000499659.2:n.*2868-64_*2868-63insAACAGGG
ENST00000659194.3:c.11764-64_11764-63insAACAGGG	ENSP00000499653.3:n.11764-64_11764-63insAACAGGG
ENST00000660292.2:c.11797-64_11797-63insAACAGGG	ENSP00000499787.2:n.11797-64_11797-63insAACAGGG
ENST00000659194.2:c.3953-64_3953-63insAACAGGG
ENST00000366574.7:c.11776-64_11776-63insAACAGGG MANE Select	ENSP00000355533.2:n.11776-64_11776-63insAACAGGG
ENST00000659194.1:c.3953-64_3953-63insAACAGGG
ENST00000660292.1:c.1829-64_1829-63insAACAGGG
ENST00000360064.7:c.11728-64_11728-63insAACAGGG	ENSP00000353174.7:n.11728-64_11728-63insAACAGGG
ENST00000366574.6:c.11776-64_11776-63insAACAGGG	ENSP00000355533.2:n.11776-64_11776-63insAACAGGG
ENST00000609119.1:n.2971-64_2971-63insAACAGGG
NM_001035.2:c.11776-64_11776-63insAACAGGG	NP_001026.2:n.11776-64_11776-63insAACAGGG
XM_006711802.2:c.11830-64_11830-63insAACAGGG	XP_006711865.1:n.11830-64_11830-63insAACAGGG
XM_006711803.2:c.11827-64_11827-63insAACAGGG	XP_006711866.1:n.11827-64_11827-63insAACAGGG
XM_006711804.2:c.11806-64_11806-63insAACAGGG	XP_006711867.1:n.11806-64_11806-63insAACAGGG
XM_006711805.2:c.11800-64_11800-63insAACAGGG	XP_006711868.1:n.11800-64_11800-63insAACAGGG
XM_006711806.2:c.11794-64_11794-63insAACAGGG	XP_006711869.1:n.11794-64_11794-63insAACAGGG
XM_006711807.2:c.11770-64_11770-63insAACAGGG	XP_006711870.1:n.11770-64_11770-63insAACAGGG
XM_006711808.2:c.11593-64_11593-63insAACAGGG	XP_006711871.1:n.11593-64_11593-63insAACAGGG
XM_006711810.2:c.11737-64_11737-63insAACAGGG	XP_006711873.1:n.11737-64_11737-63insAACAGGG
XM_006711802.3:c.11830-64_11830-63insAACAGGG	XP_006711865.1:n.11830-64_11830-63insAACAGGG
XM_006711803.3:c.11827-64_11827-63insAACAGGG	XP_006711866.1:n.11827-64_11827-63insAACAGGG
XM_006711804.3:c.11806-64_11806-63insAACAGGG	XP_006711867.1:n.11806-64_11806-63insAACAGGG
XM_006711805.3:c.11800-64_11800-63insAACAGGG	XP_006711868.1:n.11800-64_11800-63insAACAGGG
XM_006711806.3:c.11794-64_11794-63insAACAGGG	XP_006711869.1:n.11794-64_11794-63insAACAGGG
XM_006711807.3:c.11770-64_11770-63insAACAGGG	XP_006711870.1:n.11770-64_11770-63insAACAGGG
XM_006711808.3:c.11593-64_11593-63insAACAGGG	XP_006711871.1:n.11593-64_11593-63insAACAGGG
XM_006711810.3:c.11737-64_11737-63insAACAGGG	XP_006711873.1:n.11737-64_11737-63insAACAGGG
XM_017002028.1:c.11809-64_11809-63insAACAGGG	XP_016857517.1:n.11809-64_11809-63insAACAGGG
NM_001035.3:c.11776-64_11776-63insAACAGGG MANE Select	NP_001026.2:n.11776-64_11776-63insAACAGGG