Canonical Allele Identifier: CA008206

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806273A>G , CM000663.2:g.237806273A>G	GRCh38
NC_000001.10:g.237969573A>G , CM000663.1:g.237969573A>G	GRCh37
NC_000001.9:g.236036196A>G	NCBI36
NG_008799.2:g.768872A>G
NG_008799.3:g.769090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5380A>G	ENSP00000499659.2:n.*5380A>G
ENST00000659194.3:c.14270A>G	ENSP00000499653.3:p.Asn4757Ser
ENST00000660292.2:c.14309A>G	ENSP00000499787.2:p.Asn4770Ser
ENST00000659194.2:c.6459A>G
ENST00000366574.7:c.14288A>G MANE Select	ENSP00000355533.2:p.Asn4763Ser
ENST00000360064.7:c.14237A>G	ENSP00000353174.7:p.Asn4746Ser
ENST00000366574.6:c.14288A>G	ENSP00000355533.2:p.Asn4763Ser
ENST00000608590.5:n.799A>G
NM_001035.2:c.14288A>G	NP_001026.2:p.Asn4763Ser
XM_006711802.2:c.14342A>G	XP_006711865.1:p.Asn4781Ser
XM_006711803.2:c.14339A>G	XP_006711866.1:p.Asn4780Ser
XM_006711804.2:c.14318A>G	XP_006711867.1:p.Asn4773Ser
XM_006711805.2:c.14312A>G	XP_006711868.1:p.Asn4771Ser
XM_006711806.2:c.14306A>G	XP_006711869.1:p.Asn4769Ser
XM_006711807.2:c.14282A>G	XP_006711870.1:p.Asn4761Ser
XM_006711808.2:c.14105A>G	XP_006711871.1:p.Asn4702Ser
XM_006711810.2:c.14249A>G	XP_006711873.1:p.Asn4750Ser
XM_006711802.3:c.14342A>G	XP_006711865.1:p.Asn4781Ser
XM_006711803.3:c.14339A>G	XP_006711866.1:p.Asn4780Ser
XM_006711804.3:c.14318A>G	XP_006711867.1:p.Asn4773Ser
XM_006711805.3:c.14312A>G	XP_006711868.1:p.Asn4771Ser
XM_006711806.3:c.14306A>G	XP_006711869.1:p.Asn4769Ser
XM_006711807.3:c.14282A>G	XP_006711870.1:p.Asn4761Ser
XM_006711808.3:c.14105A>G	XP_006711871.1:p.Asn4702Ser
XM_006711810.3:c.14249A>G	XP_006711873.1:p.Asn4750Ser
XM_017002028.1:c.14321A>G	XP_016857517.1:p.Asn4774Ser
NM_001035.3:c.14288A>G MANE Select	NP_001026.2:p.Asn4763Ser