Canonical Allele Identifier: CA2135558

Gene: PAX3

Linked Data

• ClinVar Variation Id: 226997
• ClinVar RCV Id: RCV000220119 ; RCV000295435 ; RCV000391338 ; RCV000946684
• dbSNP Id: rs45522331
• ExAC: 2:223086020 C / A
• gnomAD v2: 2-223086020-C-A
• gnomAD v3: 2-222221301-C-A
• gnomAD v4: 2-222221301-C-A
• MyVariant Identifiers: chr2:g.223086020C>A (hg19) ; chr2:g.222221301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221301C>A , CM000664.2:g.222221301C>A	GRCh38
NC_000002.11:g.223086020C>A , CM000664.1:g.223086020C>A	GRCh37
NC_000002.10:g.222794264C>A	NCBI36
NG_011632.1:g.82681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.879G>T	ENSP00000338767.5:p.Gly293=
ENST00000344493.9:c.879G>T	ENSP00000342092.4:p.Gly293=
ENST00000350526.9:c.879G>T	ENSP00000343052.4:p.Gly293=
ENST00000392070.7:c.879G>T MANE Select	ENSP00000375922.3:p.Gly293=
ENST00000464706.6:n.317G>T
ENST00000644699.1:n.205G>T
ENST00000644937.1:n.151G>T
ENST00000646154.1:n.693G>T
ENST00000336840.10:c.879G>T	ENSP00000338767.5:p.Gly293=
ENST00000344493.8:c.879G>T	ENSP00000342092.4:p.Gly293=
ENST00000350526.8:c.879G>T	ENSP00000343052.4:p.Gly293=
ENST00000392069.6:c.879G>T	ENSP00000375921.2:p.Gly293=
ENST00000392070.6:c.879G>T	ENSP00000375922.2:p.Gly293=
ENST00000409551.7:c.876G>T	ENSP00000386750.3:p.Gly292=
ENST00000464706.5:n.303G>T
ENST00000555548.1:n.110G>T
NM_001127366.2:c.876G>T	NP_001120838.1:p.Gly292=
NM_181457.3:c.879G>T	NP_852122.1:p.Gly293=
NM_181458.3:c.879G>T	NP_852123.1:p.Gly293=
NM_181459.3:c.879G>T	NP_852124.1:p.Gly293=
NM_181460.3:c.879G>T	NP_852125.1:p.Gly293=
NM_181461.3:c.879G>T	NP_852126.1:p.Gly293=
XM_011511278.1:c.1023G>T	XP_011509580.1:p.Gly341=
XM_011511279.1:c.315G>T	XP_011509581.1:p.Gly105=
NM_001127366.3:c.876G>T	NP_001120838.1:p.Gly292=
NM_181457.4:c.879G>T	NP_852122.1:p.Gly293=
NM_181458.4:c.879G>T MANE Select	NP_852123.1:p.Gly293=
NM_181459.4:c.879G>T	NP_852124.1:p.Gly293=
NM_181460.4:c.879G>T	NP_852125.1:p.Gly293=
NM_181461.4:c.879G>T	NP_852126.1:p.Gly293=