Canonical Allele Identifier: CA2135522

Gene: PAX3

Linked Data

• ClinVar Variation Id: 504758
• ClinVar RCV Id: RCV000615536 ; RCV000917500 ; RCV003900363
• dbSNP Id: rs149799356
• ExAC: 2:223085050 C / T
• gnomAD v2: 2-223085050-C-T
• gnomAD v3: 2-222220331-C-T
• gnomAD v4: 2-222220331-C-T
• MyVariant Identifiers: chr2:g.223085050C>T (hg19) ; chr2:g.222220331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222220331C>T , CM000664.2:g.222220331C>T	GRCh38
NC_000002.11:g.223085050C>T , CM000664.1:g.223085050C>T	GRCh37
NC_000002.10:g.222793294C>T	NCBI36
NG_011632.1:g.83651G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.982G>A	ENSP00000338767.5:p.Val328Ile
ENST00000344493.9:c.982G>A	ENSP00000342092.4:p.Val328Ile
ENST00000350526.9:c.982G>A	ENSP00000343052.4:p.Val328Ile
ENST00000392070.7:c.982G>A MANE Select	ENSP00000375922.3:p.Val328Ile
ENST00000464706.6:n.420G>A
ENST00000644699.1:n.308G>A
ENST00000644937.1:n.254G>A
ENST00000646154.1:n.796G>A
ENST00000336840.10:c.982G>A	ENSP00000338767.5:p.Val328Ile
ENST00000344493.8:c.982G>A	ENSP00000342092.4:p.Val328Ile
ENST00000350526.8:c.982G>A	ENSP00000343052.4:p.Val328Ile
ENST00000392069.6:c.982G>A	ENSP00000375921.2:p.Val328Ile
ENST00000392070.6:c.982G>A	ENSP00000375922.2:p.Val328Ile
ENST00000409551.7:c.979G>A	ENSP00000386750.3:p.Val327Ile
ENST00000464706.5:n.406G>A
ENST00000555548.1:n.213G>A
NM_001127366.2:c.979G>A	NP_001120838.1:p.Val327Ile
NM_181457.3:c.982G>A	NP_852122.1:p.Val328Ile
NM_181458.3:c.982G>A	NP_852123.1:p.Val328Ile
NM_181459.3:c.982G>A	NP_852124.1:p.Val328Ile
NM_181460.3:c.982G>A	NP_852125.1:p.Val328Ile
NM_181461.3:c.982G>A	NP_852126.1:p.Val328Ile
XM_011511278.1:c.1126G>A	XP_011509580.1:p.Val376Ile
XM_011511279.1:c.418G>A	XP_011509581.1:p.Val140Ile
XR_001739903.1:n.240-65C>T
NM_001127366.3:c.979G>A	NP_001120838.1:p.Val327Ile
NM_181457.4:c.982G>A	NP_852122.1:p.Val328Ile
NM_181458.4:c.982G>A MANE Select	NP_852123.1:p.Val328Ile
NM_181459.4:c.982G>A	NP_852124.1:p.Val328Ile
NM_181460.4:c.982G>A	NP_852125.1:p.Val328Ile
NM_181461.4:c.982G>A	NP_852126.1:p.Val328Ile