Canonical Allele Identifier: CA174452

Gene: USF2

Linked Data

• ClinVar Variation Id: 161613
• ClinVar RCV Id: RCV000149149
• dbSNP Id: rs193920819
• gnomAD v4: 19-35270514-G-A
• COSMIC: COSM1179634
• MyVariant Identifiers: chr19:g.35761417G>A (hg19) ; chr19:g.35270514G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35270514G>A , CM000681.2:g.35270514G>A	GRCh38
NC_000019.9:g.35761417G>A , CM000681.1:g.35761417G>A	GRCh37
NC_000019.8:g.40453257G>A	NCBI36
NG_029241.1:g.6522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222305.8:c.497G>A MANE Select	ENSP00000222305.2:p.Arg166Gln
ENST00000222305.7:c.497G>A	ENSP00000222305.2:p.Arg166Gln
ENST00000343550.9:c.296G>A	ENSP00000340633.4:p.Arg99Gln
ENST00000379134.7:c.229-245G>A	ENSP00000368429.3:n.229-245G>A
ENST00000594064.5:c.491G>A	ENSP00000471511.1:p.Arg164Gln
ENST00000595068.5:c.497G>A	ENSP00000471099.1:p.Arg166Gln
ENST00000596380.5:c.131G>A	ENSP00000471775.1:p.Arg44Gln
ENST00000597671.5:c.21G>A
ENST00000599471.5:c.65G>A	ENSP00000469364.2:p.Arg22Gln
ENST00000602164.5:c.579G>A	ENSP00000477020.1:n.579G>A
ENST00000607959.5:n.811G>A
NM_003367.2:c.497G>A	NP_003358.1:p.Arg166Gln
NM_207291.1:c.296G>A	NP_997174.1:p.Arg99Gln
XM_005259197.2:c.497G>A	XP_005259254.1:p.Arg166Gln
XM_011527260.1:c.497G>A	XP_011525562.1:p.Arg166Gln
XM_011527261.1:c.497G>A	XP_011525563.1:p.Arg166Gln
NM_001321150.1:c.229-245G>A	NP_001308079.1:n.229-245G>A
NM_003367.3:c.497G>A	NP_003358.1:p.Arg166Gln
NM_207291.2:c.296G>A	NP_997174.1:p.Arg99Gln
XM_005259197.4:c.497G>A	XP_005259254.1:p.Arg166Gln
XM_011527260.2:c.497G>A	XP_011525562.1:p.Arg166Gln
XM_011527261.2:c.497G>A	XP_011525563.1:p.Arg166Gln
XM_017027199.1:c.296G>A	XP_016882688.1:p.Arg99Gln
XM_024451684.1:c.497G>A	XP_024307452.1:p.Arg166Gln
XM_024451685.1:c.296G>A	XP_024307453.1:p.Arg99Gln
NM_003367.4:c.497G>A MANE Select	NP_003358.1:p.Arg166Gln
NM_001321150.2:c.229-245G>A	NP_001308079.1:n.229-245G>A
NM_207291.3:c.296G>A	NP_997174.1:p.Arg99Gln