Canonical Allele Identifier: CA345429352

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828413-G-A
• MyVariant Identifiers: chr1:g.237991713G>A (hg19) ; chr1:g.237828413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828413G>A , CM000663.2:g.237828413G>A	GRCh38
NC_000001.10:g.237991713G>A , CM000663.1:g.237991713G>A	GRCh37
NC_000001.9:g.236058336G>A	NCBI36
NG_008799.2:g.791012G>A
NG_008799.3:g.791230G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5715G>A	ENSP00000499659.2:n.*5715G>A
ENST00000659194.3:c.14605G>A	ENSP00000499653.3:p.Asp4869Asn
ENST00000660292.2:c.14644G>A	ENSP00000499787.2:p.Asp4882Asn
ENST00000659194.2:c.6794G>A
ENST00000366574.7:c.14623G>A MANE Select	ENSP00000355533.2:p.Asp4875Asn
ENST00000360064.7:c.14572G>A	ENSP00000353174.7:p.Asp4858Asn
ENST00000366574.6:c.14623G>A	ENSP00000355533.2:p.Asp4875Asn
ENST00000608590.5:n.1134G>A
NM_001035.2:c.14623G>A	NP_001026.2:p.Asp4875Asn
XM_006711802.2:c.14677G>A	XP_006711865.1:p.Asp4893Asn
XM_006711803.2:c.14674G>A	XP_006711866.1:p.Asp4892Asn
XM_006711804.2:c.14653G>A	XP_006711867.1:p.Asp4885Asn
XM_006711805.2:c.14647G>A	XP_006711868.1:p.Asp4883Asn
XM_006711806.2:c.14641G>A	XP_006711869.1:p.Asp4881Asn
XM_006711807.2:c.14617G>A	XP_006711870.1:p.Asp4873Asn
XM_006711808.2:c.14440G>A	XP_006711871.1:p.Asp4814Asn
XM_006711810.2:c.14584G>A	XP_006711873.1:p.Asp4862Asn
XM_006711802.3:c.14677G>A	XP_006711865.1:p.Asp4893Asn
XM_006711803.3:c.14674G>A	XP_006711866.1:p.Asp4892Asn
XM_006711804.3:c.14653G>A	XP_006711867.1:p.Asp4885Asn
XM_006711805.3:c.14647G>A	XP_006711868.1:p.Asp4883Asn
XM_006711806.3:c.14641G>A	XP_006711869.1:p.Asp4881Asn
XM_006711807.3:c.14617G>A	XP_006711870.1:p.Asp4873Asn
XM_006711808.3:c.14440G>A	XP_006711871.1:p.Asp4814Asn
XM_006711810.3:c.14584G>A	XP_006711873.1:p.Asp4862Asn
XM_017002028.1:c.14656G>A	XP_016857517.1:p.Asp4886Asn
NM_001035.3:c.14623G>A MANE Select	NP_001026.2:p.Asp4875Asn