Canonical Allele Identifier: CA351113507

Gene: PAX3

Linked Data

• ClinVar Variation Id: 547737
• ClinVar RCV Id: RCV000660205
• dbSNP Id: rs777297575
• MyVariant Identifiers: chr2:g.223161772G>T (hg19) ; chr2:g.222297053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222297053G>T , CM000664.2:g.222297053G>T	GRCh38
NC_000002.11:g.223161772G>T , CM000664.1:g.223161772G>T	GRCh37
NC_000002.10:g.222870016G>T	NCBI36
NG_011632.1:g.6929C>A
NG_021186.1:g.3907G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258387.6:c.246C>A	ENSP00000258387.5:p.Cys82Ter
ENST00000336840.11:c.246C>A	ENSP00000338767.5:p.Cys82Ter
ENST00000344493.9:c.246C>A	ENSP00000342092.4:p.Cys82Ter
ENST00000350526.9:c.246C>A	ENSP00000343052.4:p.Cys82Ter
ENST00000392070.7:c.246C>A MANE Select	ENSP00000375922.3:p.Cys82Ter
ENST00000647467.1:n.627C>A
ENST00000258387.5:c.246C>A	ENSP00000258387.5:p.Cys82Ter
ENST00000336840.10:c.246C>A	ENSP00000338767.5:p.Cys82Ter
ENST00000344493.8:c.246C>A	ENSP00000342092.4:p.Cys82Ter
ENST00000350526.8:c.246C>A	ENSP00000343052.4:p.Cys82Ter
ENST00000392069.6:c.246C>A	ENSP00000375921.2:p.Cys82Ter
ENST00000392070.6:c.246C>A	ENSP00000375922.2:p.Cys82Ter
ENST00000409551.7:c.246C>A	ENSP00000386750.3:p.Cys82Ter
ENST00000409828.7:c.246C>A	ENSP00000386817.3:p.Cys82Ter
NM_000438.5:c.246C>A	NP_000429.2:p.Cys82Ter
NM_001127366.2:c.246C>A	NP_001120838.1:p.Cys82Ter
NM_013942.4:c.246C>A	NP_039230.1:p.Cys82Ter
NM_181457.3:c.246C>A	NP_852122.1:p.Cys82Ter
NM_181458.3:c.246C>A	NP_852123.1:p.Cys82Ter
NM_181459.3:c.246C>A	NP_852124.1:p.Cys82Ter
NM_181460.3:c.246C>A	NP_852125.1:p.Cys82Ter
NM_181461.3:c.246C>A	NP_852126.1:p.Cys82Ter
XM_011511278.1:c.390C>A	XP_011509580.1:p.Cys130Ter
XM_011511280.1:c.390C>A	XP_011509582.1:p.Cys130Ter
XM_011511281.1:c.390C>A	XP_011509583.1:p.Cys130Ter
NM_000438.6:c.246C>A	NP_000429.2:p.Cys82Ter
NM_001127366.3:c.246C>A	NP_001120838.1:p.Cys82Ter
NM_013942.5:c.246C>A	NP_039230.1:p.Cys82Ter
NM_181457.4:c.246C>A	NP_852122.1:p.Cys82Ter
NM_181458.4:c.246C>A MANE Select	NP_852123.1:p.Cys82Ter
NM_181459.4:c.246C>A	NP_852124.1:p.Cys82Ter
NM_181460.4:c.246C>A	NP_852125.1:p.Cys82Ter
NM_181461.4:c.246C>A	NP_852126.1:p.Cys82Ter