Canonical Allele Identifier: CA351115920

Gene: PAX3

Linked Data

• gnomAD v4: 2-222202184-C-G
• MyVariant Identifiers: chr2:g.223066903C>G (hg19) ; chr2:g.222202184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202184C>G , CM000664.2:g.222202184C>G	GRCh38
NC_000002.11:g.223066903C>G , CM000664.1:g.223066903C>G	GRCh37
NC_000002.10:g.222775147C>G	NCBI36
NG_011632.1:g.101798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-742G>C	ENSP00000338767.5:n.1174-742G>C
ENST00000344493.9:c.1174-742G>C	ENSP00000342092.4:n.1174-742G>C
ENST00000350526.9:c.1180G>C	ENSP00000343052.4:p.Gly394Arg
ENST00000392070.7:c.1180G>C MANE Select	ENSP00000375922.3:p.Gly394Arg
ENST00000464706.6:n.618G>C
ENST00000644699.1:n.506G>C
ENST00000646154.1:n.994G>C
ENST00000336840.10:c.1174-742G>C	ENSP00000338767.5:n.1174-742G>C
ENST00000344493.8:c.1174-742G>C	ENSP00000342092.4:n.1174-742G>C
ENST00000350526.8:c.1180G>C	ENSP00000343052.4:p.Gly394Arg
ENST00000392069.6:c.1180G>C	ENSP00000375921.2:p.Gly394Arg
ENST00000392070.6:c.1180G>C	ENSP00000375922.2:p.Gly394Arg
ENST00000409551.7:c.1177G>C	ENSP00000386750.3:p.Gly393Arg
ENST00000464706.5:n.604G>C
ENST00000555548.1:n.411G>C
NM_001127366.2:c.1177G>C	NP_001120838.1:p.Gly393Arg
NM_181457.3:c.1180G>C	NP_852122.1:p.Gly394Arg
NM_181458.3:c.1180G>C	NP_852123.1:p.Gly394Arg
NM_181459.3:c.1180G>C	NP_852124.1:p.Gly394Arg
NM_181460.3:c.1174-742G>C	NP_852125.1:n.1174-742G>C
NM_181461.3:c.1174-742G>C	NP_852126.1:n.1174-742G>C
XM_011511278.1:c.1324G>C	XP_011509580.1:p.Gly442Arg
XM_011511279.1:c.616G>C	XP_011509581.1:p.Gly206Arg
NM_001127366.3:c.1177G>C	NP_001120838.1:p.Gly393Arg
NM_181457.4:c.1180G>C	NP_852122.1:p.Gly394Arg
NM_181458.4:c.1180G>C MANE Select	NP_852123.1:p.Gly394Arg
NM_181459.4:c.1180G>C	NP_852124.1:p.Gly394Arg
NM_181460.4:c.1174-742G>C	NP_852125.1:n.1174-742G>C
NM_181461.4:c.1174-742G>C	NP_852126.1:n.1174-742G>C