Canonical Allele Identifier: CA39821278

Gene: RYR2

Linked Data

• dbSNP Id: rs902875924
• gnomAD v3: 1-237778630-T-C
• gnomAD v4: 1-237778630-T-C
• MyVariant Identifiers: chr1:g.237941930T>C (hg19) ; chr1:g.237778630T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778630T>C , CM000663.2:g.237778630T>C	GRCh38
NC_000001.10:g.237941930T>C , CM000663.1:g.237941930T>C	GRCh37
NC_000001.9:g.236008553T>C	NCBI36
NG_008799.2:g.741229T>C
NG_008799.3:g.741447T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2868-36T>C	ENSP00000499659.2:n.*2868-36T>C
ENST00000659194.3:c.11764-36T>C	ENSP00000499653.3:n.11764-36T>C
ENST00000660292.2:c.11797-36T>C	ENSP00000499787.2:n.11797-36T>C
ENST00000659194.2:c.3953-36T>C
ENST00000366574.7:c.11776-36T>C MANE Select	ENSP00000355533.2:n.11776-36T>C
ENST00000659194.1:c.3953-36T>C
ENST00000660292.1:c.1829-36T>C
ENST00000360064.7:c.11728-36T>C	ENSP00000353174.7:n.11728-36T>C
ENST00000366574.6:c.11776-36T>C	ENSP00000355533.2:n.11776-36T>C
ENST00000609119.1:n.2971-36T>C
NM_001035.2:c.11776-36T>C	NP_001026.2:n.11776-36T>C
XM_006711802.2:c.11830-36T>C	XP_006711865.1:n.11830-36T>C
XM_006711803.2:c.11827-36T>C	XP_006711866.1:n.11827-36T>C
XM_006711804.2:c.11806-36T>C	XP_006711867.1:n.11806-36T>C
XM_006711805.2:c.11800-36T>C	XP_006711868.1:n.11800-36T>C
XM_006711806.2:c.11794-36T>C	XP_006711869.1:n.11794-36T>C
XM_006711807.2:c.11770-36T>C	XP_006711870.1:n.11770-36T>C
XM_006711808.2:c.11593-36T>C	XP_006711871.1:n.11593-36T>C
XM_006711810.2:c.11737-36T>C	XP_006711873.1:n.11737-36T>C
XM_006711802.3:c.11830-36T>C	XP_006711865.1:n.11830-36T>C
XM_006711803.3:c.11827-36T>C	XP_006711866.1:n.11827-36T>C
XM_006711804.3:c.11806-36T>C	XP_006711867.1:n.11806-36T>C
XM_006711805.3:c.11800-36T>C	XP_006711868.1:n.11800-36T>C
XM_006711806.3:c.11794-36T>C	XP_006711869.1:n.11794-36T>C
XM_006711807.3:c.11770-36T>C	XP_006711870.1:n.11770-36T>C
XM_006711808.3:c.11593-36T>C	XP_006711871.1:n.11593-36T>C
XM_006711810.3:c.11737-36T>C	XP_006711873.1:n.11737-36T>C
XM_017002028.1:c.11809-36T>C	XP_016857517.1:n.11809-36T>C
NM_001035.3:c.11776-36T>C MANE Select	NP_001026.2:n.11776-36T>C