Canonical Allele Identifier: CA085059

Gene: RYR2

Linked Data

• dbSNP Id: rs376420889
• ExAC: 1:237941918 G / T
• gnomAD v2: 1-237941918-G-T
• gnomAD v3: 1-237778618-G-T
• gnomAD v4: 1-237778618-G-T
• MyVariant Identifiers: chr1:g.237941918G>T (hg19) ; chr1:g.237778618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778618G>T , CM000663.2:g.237778618G>T	GRCh38
NC_000001.10:g.237941918G>T , CM000663.1:g.237941918G>T	GRCh37
NC_000001.9:g.236008541G>T	NCBI36
NG_008799.2:g.741217G>T
NG_008799.3:g.741435G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2868-48G>T	ENSP00000499659.2:n.*2868-48G>T
ENST00000659194.3:c.11764-48G>T	ENSP00000499653.3:n.11764-48G>T
ENST00000660292.2:c.11797-48G>T	ENSP00000499787.2:n.11797-48G>T
ENST00000659194.2:c.3953-48G>T
ENST00000366574.7:c.11776-48G>T MANE Select	ENSP00000355533.2:n.11776-48G>T
ENST00000659194.1:c.3953-48G>T
ENST00000660292.1:c.1829-48G>T
ENST00000360064.7:c.11728-48G>T	ENSP00000353174.7:n.11728-48G>T
ENST00000366574.6:c.11776-48G>T	ENSP00000355533.2:n.11776-48G>T
ENST00000609119.1:n.2971-48G>T
NM_001035.2:c.11776-48G>T	NP_001026.2:n.11776-48G>T
XM_006711802.2:c.11830-48G>T	XP_006711865.1:n.11830-48G>T
XM_006711803.2:c.11827-48G>T	XP_006711866.1:n.11827-48G>T
XM_006711804.2:c.11806-48G>T	XP_006711867.1:n.11806-48G>T
XM_006711805.2:c.11800-48G>T	XP_006711868.1:n.11800-48G>T
XM_006711806.2:c.11794-48G>T	XP_006711869.1:n.11794-48G>T
XM_006711807.2:c.11770-48G>T	XP_006711870.1:n.11770-48G>T
XM_006711808.2:c.11593-48G>T	XP_006711871.1:n.11593-48G>T
XM_006711810.2:c.11737-48G>T	XP_006711873.1:n.11737-48G>T
XM_006711802.3:c.11830-48G>T	XP_006711865.1:n.11830-48G>T
XM_006711803.3:c.11827-48G>T	XP_006711866.1:n.11827-48G>T
XM_006711804.3:c.11806-48G>T	XP_006711867.1:n.11806-48G>T
XM_006711805.3:c.11800-48G>T	XP_006711868.1:n.11800-48G>T
XM_006711806.3:c.11794-48G>T	XP_006711869.1:n.11794-48G>T
XM_006711807.3:c.11770-48G>T	XP_006711870.1:n.11770-48G>T
XM_006711808.3:c.11593-48G>T	XP_006711871.1:n.11593-48G>T
XM_006711810.3:c.11737-48G>T	XP_006711873.1:n.11737-48G>T
XM_017002028.1:c.11809-48G>T	XP_016857517.1:n.11809-48G>T
NM_001035.3:c.11776-48G>T MANE Select	NP_001026.2:n.11776-48G>T