Canonical Allele Identifier: CA117244
Gene: FOXP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5067
ClinVar RCV Id: RCV000005371
dbSNP Id: rs121908377
MyVariant Identifiers: chr7:g.114302130G>A (hg19) chr7:g.114662075G>A (hg38)
PubMed: PMID:2332125 PMID:11586359 PMID:20858596 PMID:22434823 PMID:27336128 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.114662075G>A , CM000669.2:g.114662075G>A GRCh38
NC_000007.13:g.114302130G>A , CM000669.1:g.114302130G>A GRCh37
NC_000007.12:g.114089366G>A NCBI36
NG_007491.2:g.580766G>A
NG_007491.3:g.580766G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403559.9:c.1709G>A ENSP00000385069.4:p.Arg570His
ENST00000703612.1:c.1649G>A ENSP00000515396.1:p.Arg550His
ENST00000703613.1:c.1709G>A ENSP00000515397.1:p.Arg570His
ENST00000703614.1:c.1658G>A ENSP00000515398.1:p.Arg553His
ENST00000703616.1:c.1784G>A ENSP00000515400.1:p.Arg595His
ENST00000703617.1:c.1103G>A ENSP00000515401.1:p.Arg368His
ENST00000703618.1:c.555G>A
ENST00000350908.9:c.1658G>A MANE Select ENSP00000265436.7:p.Arg553His
ENST00000393489.8:c.*1452G>A ENSP00000377129.4:n.*1452G>A
ENST00000350908.8:c.1658G>A ENSP00000265436.7:p.Arg553His
ENST00000393489.7:c.1382G>A ENSP00000377129.3:p.Arg461His
ENST00000393491.7:c.1103G>A ENSP00000377130.3:p.Arg368His
ENST00000393494.6:c.1658G>A ENSP00000377132.2:p.Arg553His
ENST00000393498.6:c.1595G>A ENSP00000377135.2:p.Arg532His
ENST00000403559.8:c.1709G>A ENSP00000385069.4:p.Arg570His
ENST00000408937.7:c.1733G>A ENSP00000386200.3:p.Arg578His
ENST00000412402.5:c.*1376G>A ENSP00000405470.1:n.*1376G>A
ENST00000441290.6:c.*1658G>A ENSP00000416825.1:n.*1658G>A
ENST00000634411.1:c.1607G>A ENSP00000489135.1:p.Arg536His
ENST00000634623.1:c.1598G>A ENSP00000488944.1:p.Arg533His
ENST00000634664.1:n.133G>A
ENST00000635109.1:c.*1455G>A ENSP00000489457.1:n.*1455G>A
ENST00000635534.1:c.1649G>A ENSP00000489229.1:p.Arg550His
ENST00000635638.1:c.1661G>A ENSP00000489073.1:p.Arg554His
NM_001172766.2:c.1655G>A NP_001166237.1:p.Arg552His
NM_014491.3:c.1658G>A NP_055306.1:p.Arg553His
NM_148898.3:c.1733G>A NP_683696.2:p.Arg578His
NM_148900.3:c.1709G>A NP_683698.2:p.Arg570His
NR_033766.1:n.2043G>A
NR_033767.1:n.2090G>A
XM_011516706.1:c.1802G>A XP_011515008.1:p.Arg601His
XM_017012801.2:c.1733G>A XP_016868290.1:p.Arg578His
NM_014491.4:c.1658G>A MANE Select NP_055306.1:p.Arg553His
NM_001172766.3:c.1655G>A NP_001166237.1:p.Arg552His
NM_148898.4:c.1733G>A NP_683696.2:p.Arg578His
NR_033766.2:n.2026G>A
NR_033767.2:n.2272G>A
NM_148900.4:c.1709G>A NP_683698.2:p.Arg570His
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