Canonical Allele Identifier: CA2135433

Gene: PAX3

Linked Data

• dbSNP Id: rs776696114
• ExAC: 2:223066700 G / T
• gnomAD v2: 2-223066700-G-T
• gnomAD v4: 2-222201981-G-T
• MyVariant Identifiers: chr2:g.223066700G>T (hg19) ; chr2:g.222201981G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201981G>T , CM000664.2:g.222201981G>T	GRCh38
NC_000002.11:g.223066700G>T , CM000664.1:g.223066700G>T	GRCh37
NC_000002.10:g.222774944G>T	NCBI36
NG_011632.1:g.102001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-539C>A	ENSP00000338767.5:n.1174-539C>A
ENST00000344493.9:c.1174-539C>A	ENSP00000342092.4:n.1174-539C>A
ENST00000350526.9:c.1383C>A	ENSP00000343052.4:p.Asp461Glu
ENST00000392070.7:c.1383C>A MANE Select	ENSP00000375922.3:p.Asp461Glu
ENST00000464706.6:n.821C>A
ENST00000644699.1:n.709C>A
ENST00000646154.1:n.1197C>A
ENST00000336840.10:c.1174-539C>A	ENSP00000338767.5:n.1174-539C>A
ENST00000344493.8:c.1174-539C>A	ENSP00000342092.4:n.1174-539C>A
ENST00000350526.8:c.1383C>A	ENSP00000343052.4:p.Asp461Glu
ENST00000392069.6:c.1383C>A	ENSP00000375921.2:p.Asp461Glu
ENST00000392070.6:c.1383C>A	ENSP00000375922.2:p.Asp461Glu
ENST00000409551.7:c.1380C>A	ENSP00000386750.3:p.Asp460Glu
ENST00000464706.5:n.807C>A
NM_001127366.2:c.1380C>A	NP_001120838.1:p.Asp460Glu
NM_181457.3:c.1383C>A	NP_852122.1:p.Asp461Glu
NM_181458.3:c.1383C>A	NP_852123.1:p.Asp461Glu
NM_181459.3:c.1383C>A	NP_852124.1:p.Asp461Glu
NM_181460.3:c.1174-539C>A	NP_852125.1:n.1174-539C>A
NM_181461.3:c.1174-539C>A	NP_852126.1:n.1174-539C>A
XM_011511278.1:c.1527C>A	XP_011509580.1:p.Asp509Glu
XM_011511279.1:c.819C>A	XP_011509581.1:p.Asp273Glu
NM_001127366.3:c.1380C>A	NP_001120838.1:p.Asp460Glu
NM_181457.4:c.1383C>A	NP_852122.1:p.Asp461Glu
NM_181458.4:c.1383C>A MANE Select	NP_852123.1:p.Asp461Glu
NM_181459.4:c.1383C>A	NP_852124.1:p.Asp461Glu
NM_181460.4:c.1174-539C>A	NP_852125.1:n.1174-539C>A
NM_181461.4:c.1174-539C>A	NP_852126.1:n.1174-539C>A