Canonical Allele Identifier: CA351112227

Gene: PAX3

Linked Data

• MyVariant Identifiers: chr2:g.223096834A>C (hg19) ; chr2:g.222232115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232115A>C , CM000664.2:g.222232115A>C	GRCh38
NC_000002.11:g.223096834A>C , CM000664.1:g.223096834A>C	GRCh37
NC_000002.10:g.222805078A>C	NCBI36
NG_011632.1:g.71867T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.755T>G	ENSP00000338767.5:p.Leu252Arg
ENST00000344493.9:c.755T>G	ENSP00000342092.4:p.Leu252Arg
ENST00000350526.9:c.755T>G	ENSP00000343052.4:p.Leu252Arg
ENST00000392070.7:c.755T>G MANE Select	ENSP00000375922.3:p.Leu252Arg
ENST00000646154.1:n.569T>G
ENST00000336840.10:c.755T>G	ENSP00000338767.5:p.Leu252Arg
ENST00000344493.8:c.755T>G	ENSP00000342092.4:p.Leu252Arg
ENST00000350526.8:c.755T>G	ENSP00000343052.4:p.Leu252Arg
ENST00000392069.6:c.755T>G	ENSP00000375921.2:p.Leu252Arg
ENST00000392070.6:c.755T>G	ENSP00000375922.2:p.Leu252Arg
ENST00000409551.7:c.752T>G	ENSP00000386750.3:p.Leu251Arg
NM_001127366.2:c.752T>G	NP_001120838.1:p.Leu251Arg
NM_181457.3:c.755T>G	NP_852122.1:p.Leu252Arg
NM_181458.3:c.755T>G	NP_852123.1:p.Leu252Arg
NM_181459.3:c.755T>G	NP_852124.1:p.Leu252Arg
NM_181460.3:c.755T>G	NP_852125.1:p.Leu252Arg
NM_181461.3:c.755T>G	NP_852126.1:p.Leu252Arg
XM_011511278.1:c.899T>G	XP_011509580.1:p.Leu300Arg
XM_011511279.1:c.191T>G	XP_011509581.1:p.Leu64Arg
XR_923945.1:n.287+10145A>C
NM_001127366.3:c.752T>G	NP_001120838.1:p.Leu251Arg
NM_181457.4:c.755T>G	NP_852122.1:p.Leu252Arg
NM_181458.4:c.755T>G MANE Select	NP_852123.1:p.Leu252Arg
NM_181459.4:c.755T>G	NP_852124.1:p.Leu252Arg
NM_181460.4:c.755T>G	NP_852125.1:p.Leu252Arg
NM_181461.4:c.755T>G	NP_852126.1:p.Leu252Arg