Canonical Allele Identifier: CA705233272
Gene: CFL2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.34713043A>G , CM000676.2:g.34713043A>G GRCh38
NC_000014.8:g.35182249A>G , CM000676.1:g.35182249A>G GRCh37
NC_000014.7:g.34252000A>G NCBI36
NG_012740.1:g.6781T>C , LRG_213:g.6781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298159.11:c.388+17T>C MANE Select ENSP00000298159.6:n.388+17T>C
ENST00000341223.8:c.388+17T>C ENSP00000340635.3:n.388+17T>C
ENST00000672163.1:c.388+17T>C ENSP00000500375.1:n.388+17T>C
ENST00000672517.1:c.388+17T>C ENSP00000500532.1:n.388+17T>C
ENST00000673315.1:c.337+17T>C ENSP00000500002.1:n.337+17T>C
ENST00000298159.10:c.388+17T>C ENSP00000298159.6:n.388+17T>C
ENST00000341223.7:c.388+17T>C ENSP00000340635.3:n.388+17T>C
ENST00000422678.2:c.*68+17T>C ENSP00000409326.2:n.*68+17T>C
ENST00000554470.5:c.*68+17T>C ENSP00000450862.1:n.*68+17T>C
ENST00000555765.5:c.337+17T>C ENSP00000452451.1:n.337+17T>C
ENST00000556161.1:c.337+17T>C ENSP00000452188.1:n.337+17T>C
NM_001243645.1:c.337+17T>C NP_001230574.1:n.337+17T>C
NM_021914.7:c.388+17T>C NP_068733.1:n.388+17T>C
NM_138638.4:c.388+17T>C , LRG_213t1:c.388+17T>C NP_619579.1:n.388+17T>C
NR_028130.1:n.528+17T>C
NR_028131.1:n.417+17T>C
XM_011536363.1:c.337+17T>C XP_011534665.1:n.337+17T>C
XM_011536363.3:c.337+17T>C XP_011534665.1:n.337+17T>C
NM_138638.5:c.388+17T>C MANE Select NP_619579.1:n.388+17T>C
NM_001243645.2:c.337+17T>C NP_001230574.1:n.337+17T>C
NM_021914.8:c.388+17T>C NP_068733.1:n.388+17T>C
NR_028130.2:n.298+17T>C
NR_028131.2:n.187+17T>C