Canonical Allele Identifier: CA2135544

Gene: PAX3

Linked Data

• ClinVar Variation Id: 504759
• ClinVar RCV Id: RCV000603902 ; RCV001136877 ; RCV001136878 ; RCV002065193
• dbSNP Id: rs185119406
• ExAC: 2:223085932 C / T
• gnomAD v2: 2-223085932-C-T
• gnomAD v3: 2-222221213-C-T
• gnomAD v4: 2-222221213-C-T
• MyVariant Identifiers: chr2:g.223085932C>T (hg19) ; chr2:g.222221213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221213C>T , CM000664.2:g.222221213C>T	GRCh38
NC_000002.11:g.223085932C>T , CM000664.1:g.223085932C>T	GRCh37
NC_000002.10:g.222794176C>T	NCBI36
NG_011632.1:g.82769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.958+9G>A	ENSP00000338767.5:n.958+9G>A
ENST00000344493.9:c.958+9G>A	ENSP00000342092.4:n.958+9G>A
ENST00000350526.9:c.958+9G>A	ENSP00000343052.4:n.958+9G>A
ENST00000392070.7:c.958+9G>A MANE Select	ENSP00000375922.3:n.958+9G>A
ENST00000464706.6:n.396+9G>A
ENST00000644699.1:n.284+9G>A
ENST00000644937.1:n.230+9G>A
ENST00000646154.1:n.772+9G>A
ENST00000336840.10:c.958+9G>A	ENSP00000338767.5:n.958+9G>A
ENST00000344493.8:c.958+9G>A	ENSP00000342092.4:n.958+9G>A
ENST00000350526.8:c.958+9G>A	ENSP00000343052.4:n.958+9G>A
ENST00000392069.6:c.958+9G>A	ENSP00000375921.2:n.958+9G>A
ENST00000392070.6:c.958+9G>A	ENSP00000375922.2:n.958+9G>A
ENST00000409551.7:c.955+9G>A	ENSP00000386750.3:n.955+9G>A
ENST00000464706.5:n.382+9G>A
ENST00000555548.1:n.189+9G>A
NM_001127366.2:c.955+9G>A	NP_001120838.1:n.955+9G>A
NM_181457.3:c.958+9G>A	NP_852122.1:n.958+9G>A
NM_181458.3:c.958+9G>A	NP_852123.1:n.958+9G>A
NM_181459.3:c.958+9G>A	NP_852124.1:n.958+9G>A
NM_181460.3:c.958+9G>A	NP_852125.1:n.958+9G>A
NM_181461.3:c.958+9G>A	NP_852126.1:n.958+9G>A
XM_011511278.1:c.1102+9G>A	XP_011509580.1:n.1102+9G>A
XM_011511279.1:c.394+9G>A	XP_011509581.1:n.394+9G>A
NM_001127366.3:c.955+9G>A	NP_001120838.1:n.955+9G>A
NM_181457.4:c.958+9G>A	NP_852122.1:n.958+9G>A
NM_181458.4:c.958+9G>A MANE Select	NP_852123.1:n.958+9G>A
NM_181459.4:c.958+9G>A	NP_852124.1:n.958+9G>A
NM_181460.4:c.958+9G>A	NP_852125.1:n.958+9G>A
NM_181461.4:c.958+9G>A	NP_852126.1:n.958+9G>A