Canonical Allele Identifier: CA10602851

Gene: PAX3

Linked Data

• ClinVar Variation Id: 280007
• ClinVar RCV Id: RCV000315662 ; RCV000660215
• dbSNP Id: rs886041319
• MyVariant Identifiers: chr2:g.223096805G>A (hg19) ; chr2:g.222232086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232086G>A , CM000664.2:g.222232086G>A	GRCh38
NC_000002.11:g.223096805G>A , CM000664.1:g.223096805G>A	GRCh37
NC_000002.10:g.222805049G>A	NCBI36
NG_011632.1:g.71896C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.784C>T	ENSP00000338767.5:p.Arg262Ter
ENST00000344493.9:c.784C>T	ENSP00000342092.4:p.Arg262Ter
ENST00000350526.9:c.784C>T	ENSP00000343052.4:p.Arg262Ter
ENST00000392070.7:c.784C>T MANE Select	ENSP00000375922.3:p.Arg262Ter
ENST00000646154.1:n.598C>T
ENST00000336840.10:c.784C>T	ENSP00000338767.5:p.Arg262Ter
ENST00000344493.8:c.784C>T	ENSP00000342092.4:p.Arg262Ter
ENST00000350526.8:c.784C>T	ENSP00000343052.4:p.Arg262Ter
ENST00000392069.6:c.784C>T	ENSP00000375921.2:p.Arg262Ter
ENST00000392070.6:c.784C>T	ENSP00000375922.2:p.Arg262Ter
ENST00000409551.7:c.781C>T	ENSP00000386750.3:p.Arg261Ter
NM_001127366.2:c.781C>T	NP_001120838.1:p.Arg261Ter
NM_181457.3:c.784C>T	NP_852122.1:p.Arg262Ter
NM_181458.3:c.784C>T	NP_852123.1:p.Arg262Ter
NM_181459.3:c.784C>T	NP_852124.1:p.Arg262Ter
NM_181460.3:c.784C>T	NP_852125.1:p.Arg262Ter
NM_181461.3:c.784C>T	NP_852126.1:p.Arg262Ter
XM_011511278.1:c.928C>T	XP_011509580.1:p.Arg310Ter
XM_011511279.1:c.220C>T	XP_011509581.1:p.Arg74Ter
XR_923945.1:n.287+10116G>A
XR_923946.1:n.362G>A
NM_001127366.3:c.781C>T	NP_001120838.1:p.Arg261Ter
NM_181457.4:c.784C>T	NP_852122.1:p.Arg262Ter
NM_181458.4:c.784C>T MANE Select	NP_852123.1:p.Arg262Ter
NM_181459.4:c.784C>T	NP_852124.1:p.Arg262Ter
NM_181460.4:c.784C>T	NP_852125.1:p.Arg262Ter
NM_181461.4:c.784C>T	NP_852126.1:p.Arg262Ter