Canonical Allele Identifier: CA340744
Gene: CFL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8160
ClinVar RCV Id: RCV000008638
dbSNP Id: rs80358250
MyVariant Identifiers: chr14:g.35182668C>T (hg19) chr14:g.34713462C>T (hg38)
PubMed: PMID:17160903 PMID:20301465
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.34713462C>T , CM000676.2:g.34713462C>T GRCh38
NC_000014.8:g.35182668C>T , CM000676.1:g.35182668C>T GRCh37
NC_000014.7:g.34252419C>T NCBI36
NG_012740.1:g.6362G>A , LRG_213:g.6362G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298159.11:c.103G>A MANE Select ENSP00000298159.6:p.Ala35Thr
ENST00000341223.8:c.103G>A ENSP00000340635.3:p.Ala35Thr
ENST00000672163.1:c.103G>A ENSP00000500375.1:p.Ala35Thr
ENST00000672517.1:c.103G>A ENSP00000500532.1:p.Ala35Thr
ENST00000673315.1:c.52G>A ENSP00000500002.1:p.Ala18Thr
ENST00000298159.10:c.103G>A ENSP00000298159.6:p.Ala35Thr
ENST00000341223.7:c.103G>A ENSP00000340635.3:p.Ala35Thr
ENST00000422678.2:c.103G>A ENSP00000409326.2:p.Ala35Thr
ENST00000554470.5:c.57+46G>A ENSP00000450862.1:n.57+46G>A
ENST00000555765.5:c.52G>A ENSP00000452451.1:p.Ala18Thr
ENST00000556161.1:c.52G>A ENSP00000452188.1:p.Ala18Thr
NM_001243645.1:c.52G>A NP_001230574.1:p.Ala18Thr
NM_021914.7:c.103G>A NP_068733.1:p.Ala35Thr
NM_138638.4:c.103G>A , LRG_213t1:c.103G>A NP_619579.1:p.Ala35Thr
NR_028130.1:n.386G>A
NR_028131.1:n.340+46G>A
XM_011536363.1:c.52G>A XP_011534665.1:p.Ala18Thr
XM_011536363.3:c.52G>A XP_011534665.1:p.Ala18Thr
NM_138638.5:c.103G>A MANE Select NP_619579.1:p.Ala35Thr
NM_001243645.2:c.52G>A NP_001230574.1:p.Ala18Thr
NM_021914.8:c.103G>A NP_068733.1:p.Ala35Thr
NR_028130.2:n.156G>A
NR_028131.2:n.110+46G>A
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