Canonical Allele Identifier: CA351112262

Gene: PAX3

Linked Data

• gnomAD v4: 2-222232122-C-T
• MyVariant Identifiers: chr2:g.223096841C>T (hg19) ; chr2:g.222232122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232122C>T , CM000664.2:g.222232122C>T	GRCh38
NC_000002.11:g.223096841C>T , CM000664.1:g.223096841C>T	GRCh37
NC_000002.10:g.222805085C>T	NCBI36
NG_011632.1:g.71860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.748G>A	ENSP00000338767.5:p.Glu250Lys
ENST00000344493.9:c.748G>A	ENSP00000342092.4:p.Glu250Lys
ENST00000350526.9:c.748G>A	ENSP00000343052.4:p.Glu250Lys
ENST00000392070.7:c.748G>A MANE Select	ENSP00000375922.3:p.Glu250Lys
ENST00000646154.1:n.562G>A
ENST00000336840.10:c.748G>A	ENSP00000338767.5:p.Glu250Lys
ENST00000344493.8:c.748G>A	ENSP00000342092.4:p.Glu250Lys
ENST00000350526.8:c.748G>A	ENSP00000343052.4:p.Glu250Lys
ENST00000392069.6:c.748G>A	ENSP00000375921.2:p.Glu250Lys
ENST00000392070.6:c.748G>A	ENSP00000375922.2:p.Glu250Lys
ENST00000409551.7:c.745G>A	ENSP00000386750.3:p.Glu249Lys
NM_001127366.2:c.745G>A	NP_001120838.1:p.Glu249Lys
NM_181457.3:c.748G>A	NP_852122.1:p.Glu250Lys
NM_181458.3:c.748G>A	NP_852123.1:p.Glu250Lys
NM_181459.3:c.748G>A	NP_852124.1:p.Glu250Lys
NM_181460.3:c.748G>A	NP_852125.1:p.Glu250Lys
NM_181461.3:c.748G>A	NP_852126.1:p.Glu250Lys
XM_011511278.1:c.892G>A	XP_011509580.1:p.Glu298Lys
XM_011511279.1:c.184G>A	XP_011509581.1:p.Glu62Lys
XR_923945.1:n.287+10152C>T
NM_001127366.3:c.745G>A	NP_001120838.1:p.Glu249Lys
NM_181457.4:c.748G>A	NP_852122.1:p.Glu250Lys
NM_181458.4:c.748G>A MANE Select	NP_852123.1:p.Glu250Lys
NM_181459.4:c.748G>A	NP_852124.1:p.Glu250Lys
NM_181460.4:c.748G>A	NP_852125.1:p.Glu250Lys
NM_181461.4:c.748G>A	NP_852126.1:p.Glu250Lys