Canonical Allele Identifier: CA2135610

Gene: PAX3

Linked Data

• dbSNP Id: rs762351099
• ExAC: 2:223096993 G / C
• gnomAD v2: 2-223096993-G-C
• gnomAD v4: 2-222232274-G-C
• MyVariant Identifiers: chr2:g.223096993G>C (hg19) ; chr2:g.222232274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232274G>C , CM000664.2:g.222232274G>C	GRCh38
NC_000002.11:g.223096993G>C , CM000664.1:g.223096993G>C	GRCh37
NC_000002.10:g.222805237G>C	NCBI36
NG_011632.1:g.71708C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336840.11:c.596C>G	ENSP00000338767.5:p.Pro199Arg
ENST00000344493.9:c.596C>G	ENSP00000342092.4:p.Pro199Arg
ENST00000350526.9:c.596C>G	ENSP00000343052.4:p.Pro199Arg
ENST00000392070.7:c.596C>G MANE Select	ENSP00000375922.3:p.Pro199Arg
ENST00000646154.1:n.410C>G
ENST00000336840.10:c.596C>G	ENSP00000338767.5:p.Pro199Arg
ENST00000344493.8:c.596C>G	ENSP00000342092.4:p.Pro199Arg
ENST00000350526.8:c.596C>G	ENSP00000343052.4:p.Pro199Arg
ENST00000392069.6:c.596C>G	ENSP00000375921.2:p.Pro199Arg
ENST00000392070.6:c.596C>G	ENSP00000375922.2:p.Pro199Arg
ENST00000409551.7:c.593C>G	ENSP00000386750.3:p.Pro198Arg
NM_001127366.2:c.593C>G	NP_001120838.1:p.Pro198Arg
NM_181457.3:c.596C>G	NP_852122.1:p.Pro199Arg
NM_181458.3:c.596C>G	NP_852123.1:p.Pro199Arg
NM_181459.3:c.596C>G	NP_852124.1:p.Pro199Arg
NM_181460.3:c.596C>G	NP_852125.1:p.Pro199Arg
NM_181461.3:c.596C>G	NP_852126.1:p.Pro199Arg
XM_011511278.1:c.740C>G	XP_011509580.1:p.Pro247Arg
XM_011511279.1:c.32C>G	XP_011509581.1:p.Pro11Arg
XR_923945.1:n.287+10304G>C
NM_001127366.3:c.593C>G	NP_001120838.1:p.Pro198Arg
NM_181457.4:c.596C>G	NP_852122.1:p.Pro199Arg
NM_181458.4:c.596C>G MANE Select	NP_852123.1:p.Pro199Arg
NM_181459.4:c.596C>G	NP_852124.1:p.Pro199Arg
NM_181460.4:c.596C>G	NP_852125.1:p.Pro199Arg
NM_181461.4:c.596C>G	NP_852126.1:p.Pro199Arg