Canonical Allele Identifier: CA351112926

Gene: PAX3

Linked Data

• dbSNP Id: rs1292183820
• gnomAD v2: 2-223096991-G-T
• gnomAD v4: 2-222232272-G-T
• MyVariant Identifiers: chr2:g.223096991G>T (hg19) ; chr2:g.222232272G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232272G>T , CM000664.2:g.222232272G>T	GRCh38
NC_000002.11:g.223096991G>T , CM000664.1:g.223096991G>T	GRCh37
NC_000002.10:g.222805235G>T	NCBI36
NG_011632.1:g.71710C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.598C>A	ENSP00000338767.5:p.Gln200Lys
ENST00000344493.9:c.598C>A	ENSP00000342092.4:p.Gln200Lys
ENST00000350526.9:c.598C>A	ENSP00000343052.4:p.Gln200Lys
ENST00000392070.7:c.598C>A MANE Select	ENSP00000375922.3:p.Gln200Lys
ENST00000646154.1:n.412C>A
ENST00000336840.10:c.598C>A	ENSP00000338767.5:p.Gln200Lys
ENST00000344493.8:c.598C>A	ENSP00000342092.4:p.Gln200Lys
ENST00000350526.8:c.598C>A	ENSP00000343052.4:p.Gln200Lys
ENST00000392069.6:c.598C>A	ENSP00000375921.2:p.Gln200Lys
ENST00000392070.6:c.598C>A	ENSP00000375922.2:p.Gln200Lys
ENST00000409551.7:c.595C>A	ENSP00000386750.3:p.Gln199Lys
NM_001127366.2:c.595C>A	NP_001120838.1:p.Gln199Lys
NM_181457.3:c.598C>A	NP_852122.1:p.Gln200Lys
NM_181458.3:c.598C>A	NP_852123.1:p.Gln200Lys
NM_181459.3:c.598C>A	NP_852124.1:p.Gln200Lys
NM_181460.3:c.598C>A	NP_852125.1:p.Gln200Lys
NM_181461.3:c.598C>A	NP_852126.1:p.Gln200Lys
XM_011511278.1:c.742C>A	XP_011509580.1:p.Gln248Lys
XM_011511279.1:c.34C>A	XP_011509581.1:p.Gln12Lys
XR_923945.1:n.287+10302G>T
NM_001127366.3:c.595C>A	NP_001120838.1:p.Gln199Lys
NM_181457.4:c.598C>A	NP_852122.1:p.Gln200Lys
NM_181458.4:c.598C>A MANE Select	NP_852123.1:p.Gln200Lys
NM_181459.4:c.598C>A	NP_852124.1:p.Gln200Lys
NM_181460.4:c.598C>A	NP_852125.1:p.Gln200Lys
NM_181461.4:c.598C>A	NP_852126.1:p.Gln200Lys