Canonical Allele Identifier: CA345424500

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809013-T-G
• MyVariant Identifiers: chr1:g.237972313T>G (hg19) ; chr1:g.237809013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809013T>G , CM000663.2:g.237809013T>G	GRCh38
NC_000001.10:g.237972313T>G , CM000663.1:g.237972313T>G	GRCh37
NC_000001.9:g.236038936T>G	NCBI36
NG_008799.2:g.771612T>G
NG_008799.3:g.771830T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5503T>G	ENSP00000499659.2:n.*5503T>G
ENST00000659194.3:c.14393T>G	ENSP00000499653.3:p.Met4798Arg
ENST00000660292.2:c.14432T>G	ENSP00000499787.2:p.Met4811Arg
ENST00000659194.2:c.6582T>G
ENST00000366574.7:c.14411T>G MANE Select	ENSP00000355533.2:p.Met4804Arg
ENST00000360064.7:c.14360T>G	ENSP00000353174.7:p.Met4787Arg
ENST00000366574.6:c.14411T>G	ENSP00000355533.2:p.Met4804Arg
ENST00000608590.5:n.922T>G
NM_001035.2:c.14411T>G	NP_001026.2:p.Met4804Arg
XM_006711802.2:c.14465T>G	XP_006711865.1:p.Met4822Arg
XM_006711803.2:c.14462T>G	XP_006711866.1:p.Met4821Arg
XM_006711804.2:c.14441T>G	XP_006711867.1:p.Met4814Arg
XM_006711805.2:c.14435T>G	XP_006711868.1:p.Met4812Arg
XM_006711806.2:c.14429T>G	XP_006711869.1:p.Met4810Arg
XM_006711807.2:c.14405T>G	XP_006711870.1:p.Met4802Arg
XM_006711808.2:c.14228T>G	XP_006711871.1:p.Met4743Arg
XM_006711810.2:c.14372T>G	XP_006711873.1:p.Met4791Arg
XM_006711802.3:c.14465T>G	XP_006711865.1:p.Met4822Arg
XM_006711803.3:c.14462T>G	XP_006711866.1:p.Met4821Arg
XM_006711804.3:c.14441T>G	XP_006711867.1:p.Met4814Arg
XM_006711805.3:c.14435T>G	XP_006711868.1:p.Met4812Arg
XM_006711806.3:c.14429T>G	XP_006711869.1:p.Met4810Arg
XM_006711807.3:c.14405T>G	XP_006711870.1:p.Met4802Arg
XM_006711808.3:c.14228T>G	XP_006711871.1:p.Met4743Arg
XM_006711810.3:c.14372T>G	XP_006711873.1:p.Met4791Arg
XM_017002028.1:c.14444T>G	XP_016857517.1:p.Met4815Arg
NM_001035.3:c.14411T>G MANE Select	NP_001026.2:p.Met4804Arg