Canonical Allele Identifier: CA2135602

Gene: PAX3

Linked Data

• ClinVar Variation Id: 503680
• ClinVar RCV Id: RCV000599259 ; RCV001290145 ; RCV001335583
• dbSNP Id: rs772241382
• ExAC: 2:223096922 G / A
• gnomAD v2: 2-223096922-G-A
• gnomAD v4: 2-222232203-G-A
• MyVariant Identifiers: chr2:g.223096922G>A (hg19) ; chr2:g.222232203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232203G>A , CM000664.2:g.222232203G>A	GRCh38
NC_000002.11:g.223096922G>A , CM000664.1:g.223096922G>A	GRCh37
NC_000002.10:g.222805166G>A	NCBI36
NG_011632.1:g.71779C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.667C>T	ENSP00000338767.5:p.Arg223Ter
ENST00000344493.9:c.667C>T	ENSP00000342092.4:p.Arg223Ter
ENST00000350526.9:c.667C>T	ENSP00000343052.4:p.Arg223Ter
ENST00000392070.7:c.667C>T MANE Select	ENSP00000375922.3:p.Arg223Ter
ENST00000646154.1:n.481C>T
ENST00000336840.10:c.667C>T	ENSP00000338767.5:p.Arg223Ter
ENST00000344493.8:c.667C>T	ENSP00000342092.4:p.Arg223Ter
ENST00000350526.8:c.667C>T	ENSP00000343052.4:p.Arg223Ter
ENST00000392069.6:c.667C>T	ENSP00000375921.2:p.Arg223Ter
ENST00000392070.6:c.667C>T	ENSP00000375922.2:p.Arg223Ter
ENST00000409551.7:c.664C>T	ENSP00000386750.3:p.Arg222Ter
NM_001127366.2:c.664C>T	NP_001120838.1:p.Arg222Ter
NM_181457.3:c.667C>T	NP_852122.1:p.Arg223Ter
NM_181458.3:c.667C>T	NP_852123.1:p.Arg223Ter
NM_181459.3:c.667C>T	NP_852124.1:p.Arg223Ter
NM_181460.3:c.667C>T	NP_852125.1:p.Arg223Ter
NM_181461.3:c.667C>T	NP_852126.1:p.Arg223Ter
XM_011511278.1:c.811C>T	XP_011509580.1:p.Arg271Ter
XM_011511279.1:c.103C>T	XP_011509581.1:p.Arg35Ter
XR_923945.1:n.287+10233G>A
NM_001127366.3:c.664C>T	NP_001120838.1:p.Arg222Ter
NM_181457.4:c.667C>T	NP_852122.1:p.Arg223Ter
NM_181458.4:c.667C>T MANE Select	NP_852123.1:p.Arg223Ter
NM_181459.4:c.667C>T	NP_852124.1:p.Arg223Ter
NM_181460.4:c.667C>T	NP_852125.1:p.Arg223Ter
NM_181461.4:c.667C>T	NP_852126.1:p.Arg223Ter