Canonical Allele Identifier: CA10584037
Gene: FOXP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 242975
ClinVar RCV Id: RCV000234952
dbSNP Id: rs879253772
MyVariant Identifiers: chr7:g.114299672T>C (hg19) chr7:g.114659617T>C (hg38)
PubMed: PMID:20858596 PMID:27336128
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.114659617T>C , CM000669.2:g.114659617T>C GRCh38
NC_000007.13:g.114299672T>C , CM000669.1:g.114299672T>C GRCh37
NC_000007.12:g.114086908T>C NCBI36
NG_007491.2:g.578308T>C
NG_007491.3:g.578308T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403559.9:c.1642T>C ENSP00000385069.4:p.Tyr548His
ENST00000703612.1:c.1582T>C ENSP00000515396.1:p.Tyr528His
ENST00000703613.1:c.1642T>C ENSP00000515397.1:p.Tyr548His
ENST00000703614.1:c.1591T>C ENSP00000515398.1:p.Tyr531His
ENST00000703616.1:c.1717T>C ENSP00000515400.1:p.Tyr573His
ENST00000703617.1:c.1036T>C ENSP00000515401.1:p.Tyr346His
ENST00000703618.1:c.545-2448T>C
ENST00000350908.9:c.1591T>C MANE Select ENSP00000265436.7:p.Tyr531His
ENST00000393489.8:c.*1385T>C ENSP00000377129.4:n.*1385T>C
ENST00000350908.8:c.1591T>C ENSP00000265436.7:p.Tyr531His
ENST00000393489.7:c.1315T>C ENSP00000377129.3:p.Tyr439His
ENST00000393491.7:c.1036T>C ENSP00000377130.3:p.Tyr346His
ENST00000393494.6:c.1591T>C ENSP00000377132.2:p.Tyr531His
ENST00000393498.6:c.1528T>C ENSP00000377135.2:p.Tyr510His
ENST00000403559.8:c.1642T>C ENSP00000385069.4:p.Tyr548His
ENST00000408937.7:c.1666T>C ENSP00000386200.3:p.Tyr556His
ENST00000412402.5:c.*1309T>C ENSP00000405470.1:n.*1309T>C
ENST00000441290.6:c.*1591T>C ENSP00000416825.1:n.*1591T>C
ENST00000634411.1:c.1540T>C ENSP00000489135.1:p.Tyr514His
ENST00000634623.1:c.1531T>C ENSP00000488944.1:p.Tyr511His
ENST00000635109.1:c.*1388T>C ENSP00000489457.1:n.*1388T>C
ENST00000635534.1:c.1582T>C ENSP00000489229.1:p.Tyr528His
ENST00000635638.1:c.1594T>C ENSP00000489073.1:p.Tyr532His
NM_001172766.2:c.1588T>C NP_001166237.1:p.Tyr530His
NM_014491.3:c.1591T>C NP_055306.1:p.Tyr531His
NM_148898.3:c.1666T>C NP_683696.2:p.Tyr556His
NM_148900.3:c.1642T>C NP_683698.2:p.Tyr548His
NR_033766.1:n.1976T>C
NR_033767.1:n.2023T>C
XM_011516706.1:c.1735T>C XP_011515008.1:p.Tyr579His
XM_017012801.2:c.1666T>C XP_016868290.1:p.Tyr556His
NM_014491.4:c.1591T>C MANE Select NP_055306.1:p.Tyr531His
NM_001172766.3:c.1588T>C NP_001166237.1:p.Tyr530His
NM_148898.4:c.1666T>C NP_683696.2:p.Tyr556His
NR_033766.2:n.1959T>C
NR_033767.2:n.2205T>C
NM_148900.4:c.1642T>C NP_683698.2:p.Tyr548His
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