Canonical Allele Identifier: CA351112921

Gene: PAX3

Linked Data

• dbSNP Id: rs2106095325
• gnomAD v4: 2-222232271-T-C
• MyVariant Identifiers: chr2:g.223096990T>C (hg19) ; chr2:g.222232271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232271T>C , CM000664.2:g.222232271T>C	GRCh38
NC_000002.11:g.223096990T>C , CM000664.1:g.223096990T>C	GRCh37
NC_000002.10:g.222805234T>C	NCBI36
NG_011632.1:g.71711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.599A>G	ENSP00000338767.5:p.Gln200Arg
ENST00000344493.9:c.599A>G	ENSP00000342092.4:p.Gln200Arg
ENST00000350526.9:c.599A>G	ENSP00000343052.4:p.Gln200Arg
ENST00000392070.7:c.599A>G MANE Select	ENSP00000375922.3:p.Gln200Arg
ENST00000646154.1:n.413A>G
ENST00000336840.10:c.599A>G	ENSP00000338767.5:p.Gln200Arg
ENST00000344493.8:c.599A>G	ENSP00000342092.4:p.Gln200Arg
ENST00000350526.8:c.599A>G	ENSP00000343052.4:p.Gln200Arg
ENST00000392069.6:c.599A>G	ENSP00000375921.2:p.Gln200Arg
ENST00000392070.6:c.599A>G	ENSP00000375922.2:p.Gln200Arg
ENST00000409551.7:c.596A>G	ENSP00000386750.3:p.Gln199Arg
NM_001127366.2:c.596A>G	NP_001120838.1:p.Gln199Arg
NM_181457.3:c.599A>G	NP_852122.1:p.Gln200Arg
NM_181458.3:c.599A>G	NP_852123.1:p.Gln200Arg
NM_181459.3:c.599A>G	NP_852124.1:p.Gln200Arg
NM_181460.3:c.599A>G	NP_852125.1:p.Gln200Arg
NM_181461.3:c.599A>G	NP_852126.1:p.Gln200Arg
XM_011511278.1:c.743A>G	XP_011509580.1:p.Gln248Arg
XM_011511279.1:c.35A>G	XP_011509581.1:p.Gln12Arg
XR_923945.1:n.287+10301T>C
NM_001127366.3:c.596A>G	NP_001120838.1:p.Gln199Arg
NM_181457.4:c.599A>G	NP_852122.1:p.Gln200Arg
NM_181458.4:c.599A>G MANE Select	NP_852123.1:p.Gln200Arg
NM_181459.4:c.599A>G	NP_852124.1:p.Gln200Arg
NM_181460.4:c.599A>G	NP_852125.1:p.Gln200Arg
NM_181461.4:c.599A>G	NP_852126.1:p.Gln200Arg