Canonical Allele Identifier: CA351115570

Gene: PAX3

Linked Data

• gnomAD v4: 2-222202019-A-G
• MyVariant Identifiers: chr2:g.223066738A>G (hg19) ; chr2:g.222202019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202019A>G , CM000664.2:g.222202019A>G	GRCh38
NC_000002.11:g.223066738A>G , CM000664.1:g.223066738A>G	GRCh37
NC_000002.10:g.222774982A>G	NCBI36
NG_011632.1:g.101963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-577T>C	ENSP00000338767.5:n.1174-577T>C
ENST00000344493.9:c.1174-577T>C	ENSP00000342092.4:n.1174-577T>C
ENST00000350526.9:c.1345T>C	ENSP00000343052.4:p.Cys449Arg
ENST00000392070.7:c.1345T>C MANE Select	ENSP00000375922.3:p.Cys449Arg
ENST00000464706.6:n.783T>C
ENST00000644699.1:n.671T>C
ENST00000646154.1:n.1159T>C
ENST00000336840.10:c.1174-577T>C	ENSP00000338767.5:n.1174-577T>C
ENST00000344493.8:c.1174-577T>C	ENSP00000342092.4:n.1174-577T>C
ENST00000350526.8:c.1345T>C	ENSP00000343052.4:p.Cys449Arg
ENST00000392069.6:c.1345T>C	ENSP00000375921.2:p.Cys449Arg
ENST00000392070.6:c.1345T>C	ENSP00000375922.2:p.Cys449Arg
ENST00000409551.7:c.1342T>C	ENSP00000386750.3:p.Cys448Arg
ENST00000464706.5:n.769T>C
NM_001127366.2:c.1342T>C	NP_001120838.1:p.Cys448Arg
NM_181457.3:c.1345T>C	NP_852122.1:p.Cys449Arg
NM_181458.3:c.1345T>C	NP_852123.1:p.Cys449Arg
NM_181459.3:c.1345T>C	NP_852124.1:p.Cys449Arg
NM_181460.3:c.1174-577T>C	NP_852125.1:n.1174-577T>C
NM_181461.3:c.1174-577T>C	NP_852126.1:n.1174-577T>C
XM_011511278.1:c.1489T>C	XP_011509580.1:p.Cys497Arg
XM_011511279.1:c.781T>C	XP_011509581.1:p.Cys261Arg
NM_001127366.3:c.1342T>C	NP_001120838.1:p.Cys448Arg
NM_181457.4:c.1345T>C	NP_852122.1:p.Cys449Arg
NM_181458.4:c.1345T>C MANE Select	NP_852123.1:p.Cys449Arg
NM_181459.4:c.1345T>C	NP_852124.1:p.Cys449Arg
NM_181460.4:c.1174-577T>C	NP_852125.1:n.1174-577T>C
NM_181461.4:c.1174-577T>C	NP_852126.1:n.1174-577T>C