Canonical Allele Identifier: CA351112514

Gene: PAX3

Linked Data

• ClinVar Variation Id: 2775992
• ClinVar RCV Id: RCV003662889
• dbSNP Id: rs1692622294
• gnomAD v3: 2-222232176-C-G
• gnomAD v4: 2-222232176-C-G
• MyVariant Identifiers: chr2:g.223096895C>G (hg19) ; chr2:g.222232176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232176C>G , CM000664.2:g.222232176C>G	GRCh38
NC_000002.11:g.223096895C>G , CM000664.1:g.223096895C>G	GRCh37
NC_000002.10:g.222805139C>G	NCBI36
NG_011632.1:g.71806G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.694G>C	ENSP00000338767.5:p.Glu232Gln
ENST00000344493.9:c.694G>C	ENSP00000342092.4:p.Glu232Gln
ENST00000350526.9:c.694G>C	ENSP00000343052.4:p.Glu232Gln
ENST00000392070.7:c.694G>C MANE Select	ENSP00000375922.3:p.Glu232Gln
ENST00000646154.1:n.508G>C
ENST00000336840.10:c.694G>C	ENSP00000338767.5:p.Glu232Gln
ENST00000344493.8:c.694G>C	ENSP00000342092.4:p.Glu232Gln
ENST00000350526.8:c.694G>C	ENSP00000343052.4:p.Glu232Gln
ENST00000392069.6:c.694G>C	ENSP00000375921.2:p.Glu232Gln
ENST00000392070.6:c.694G>C	ENSP00000375922.2:p.Glu232Gln
ENST00000409551.7:c.691G>C	ENSP00000386750.3:p.Glu231Gln
NM_001127366.2:c.691G>C	NP_001120838.1:p.Glu231Gln
NM_181457.3:c.694G>C	NP_852122.1:p.Glu232Gln
NM_181458.3:c.694G>C	NP_852123.1:p.Glu232Gln
NM_181459.3:c.694G>C	NP_852124.1:p.Glu232Gln
NM_181460.3:c.694G>C	NP_852125.1:p.Glu232Gln
NM_181461.3:c.694G>C	NP_852126.1:p.Glu232Gln
XM_011511278.1:c.838G>C	XP_011509580.1:p.Glu280Gln
XM_011511279.1:c.130G>C	XP_011509581.1:p.Glu44Gln
XR_923945.1:n.287+10206C>G
NM_001127366.3:c.691G>C	NP_001120838.1:p.Glu231Gln
NM_181457.4:c.694G>C	NP_852122.1:p.Glu232Gln
NM_181458.4:c.694G>C MANE Select	NP_852123.1:p.Glu232Gln
NM_181459.4:c.694G>C	NP_852124.1:p.Glu232Gln
NM_181460.4:c.694G>C	NP_852125.1:p.Glu232Gln
NM_181461.4:c.694G>C	NP_852126.1:p.Glu232Gln