Canonical Allele Identifier: CA345424503

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972314G>C (hg19) ; chr1:g.237809014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809014G>C , CM000663.2:g.237809014G>C	GRCh38
NC_000001.10:g.237972314G>C , CM000663.1:g.237972314G>C	GRCh37
NC_000001.9:g.236038937G>C	NCBI36
NG_008799.2:g.771613G>C
NG_008799.3:g.771831G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5504G>C	ENSP00000499659.2:n.*5504G>C
ENST00000659194.3:c.14394G>C	ENSP00000499653.3:p.Met4798Ile
ENST00000660292.2:c.14433G>C	ENSP00000499787.2:p.Met4811Ile
ENST00000659194.2:c.6583G>C
ENST00000366574.7:c.14412G>C MANE Select	ENSP00000355533.2:p.Met4804Ile
ENST00000360064.7:c.14361G>C	ENSP00000353174.7:p.Met4787Ile
ENST00000366574.6:c.14412G>C	ENSP00000355533.2:p.Met4804Ile
ENST00000608590.5:n.923G>C
NM_001035.2:c.14412G>C	NP_001026.2:p.Met4804Ile
XM_006711802.2:c.14466G>C	XP_006711865.1:p.Met4822Ile
XM_006711803.2:c.14463G>C	XP_006711866.1:p.Met4821Ile
XM_006711804.2:c.14442G>C	XP_006711867.1:p.Met4814Ile
XM_006711805.2:c.14436G>C	XP_006711868.1:p.Met4812Ile
XM_006711806.2:c.14430G>C	XP_006711869.1:p.Met4810Ile
XM_006711807.2:c.14406G>C	XP_006711870.1:p.Met4802Ile
XM_006711808.2:c.14229G>C	XP_006711871.1:p.Met4743Ile
XM_006711810.2:c.14373G>C	XP_006711873.1:p.Met4791Ile
XM_006711802.3:c.14466G>C	XP_006711865.1:p.Met4822Ile
XM_006711803.3:c.14463G>C	XP_006711866.1:p.Met4821Ile
XM_006711804.3:c.14442G>C	XP_006711867.1:p.Met4814Ile
XM_006711805.3:c.14436G>C	XP_006711868.1:p.Met4812Ile
XM_006711806.3:c.14430G>C	XP_006711869.1:p.Met4810Ile
XM_006711807.3:c.14406G>C	XP_006711870.1:p.Met4802Ile
XM_006711808.3:c.14229G>C	XP_006711871.1:p.Met4743Ile
XM_006711810.3:c.14373G>C	XP_006711873.1:p.Met4791Ile
XM_017002028.1:c.14445G>C	XP_016857517.1:p.Met4815Ile
NM_001035.3:c.14412G>C MANE Select	NP_001026.2:p.Met4804Ile