Canonical Allele Identifier: CA345413756

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784329-T-A
• MyVariant Identifiers: chr1:g.237947629T>A (hg19) ; chr1:g.237784329T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784329T>A , CM000663.2:g.237784329T>A	GRCh38
NC_000001.10:g.237947629T>A , CM000663.1:g.237947629T>A	GRCh37
NC_000001.9:g.236014252T>A	NCBI36
NG_008799.2:g.746928T>A
NG_008799.3:g.747146T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3709T>A	ENSP00000499659.2:n.*3709T>A
ENST00000659194.3:c.12605T>A	ENSP00000499653.3:p.Ile4202Asn
ENST00000660292.2:c.12638T>A	ENSP00000499787.2:p.Ile4213Asn
ENST00000659194.2:c.4794T>A
ENST00000366574.7:c.12617T>A MANE Select	ENSP00000355533.2:p.Ile4206Asn
ENST00000659194.1:c.4794T>A
ENST00000660292.1:c.2670T>A
ENST00000360064.7:c.12569T>A	ENSP00000353174.7:p.Ile4190Asn
ENST00000366574.6:c.12617T>A	ENSP00000355533.2:p.Ile4206Asn
ENST00000609119.1:n.3812T>A
NM_001035.2:c.12617T>A	NP_001026.2:p.Ile4206Asn
XM_006711802.2:c.12671T>A	XP_006711865.1:p.Ile4224Asn
XM_006711803.2:c.12668T>A	XP_006711866.1:p.Ile4223Asn
XM_006711804.2:c.12647T>A	XP_006711867.1:p.Ile4216Asn
XM_006711805.2:c.12641T>A	XP_006711868.1:p.Ile4214Asn
XM_006711806.2:c.12635T>A	XP_006711869.1:p.Ile4212Asn
XM_006711807.2:c.12611T>A	XP_006711870.1:p.Ile4204Asn
XM_006711808.2:c.12434T>A	XP_006711871.1:p.Ile4145Asn
XM_006711810.2:c.12578T>A	XP_006711873.1:p.Ile4193Asn
XM_006711802.3:c.12671T>A	XP_006711865.1:p.Ile4224Asn
XM_006711803.3:c.12668T>A	XP_006711866.1:p.Ile4223Asn
XM_006711804.3:c.12647T>A	XP_006711867.1:p.Ile4216Asn
XM_006711805.3:c.12641T>A	XP_006711868.1:p.Ile4214Asn
XM_006711806.3:c.12635T>A	XP_006711869.1:p.Ile4212Asn
XM_006711807.3:c.12611T>A	XP_006711870.1:p.Ile4204Asn
XM_006711808.3:c.12434T>A	XP_006711871.1:p.Ile4145Asn
XM_006711810.3:c.12578T>A	XP_006711873.1:p.Ile4193Asn
XM_017002028.1:c.12650T>A	XP_016857517.1:p.Ile4217Asn
NM_001035.3:c.12617T>A MANE Select	NP_001026.2:p.Ile4206Asn